1 abnormalities of pupil structure
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Abnormalities of Pupil Structure
Abnormal Pupil… Size--Congenital miosis (microcorea)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
--Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil… Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil… Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil… Number--Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
(Other than aniridia)
1
Abnormalities of Pupil Structure
Abnormal Pupil…Size--Congenital miosis (microcorea)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
--Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
2
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
3
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
4
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
5
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
6
Abnormalities of Pupil Structure7
Congenital microcoria
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
8
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
9
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil--e.g., coloboma
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure
abnormality
10
Abnormalities of Pupil Structure11
Congenital microcoria
The patient was a 73-year-old white female with bilateral congenital mydriasis and no other abnormalities. The pupils reacted almost imperceptibly to light.
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
12
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
13
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
14
Abnormalities of Pupil Structure15
Dyscoria
Slit-shaped dyscoric pupil OS (note also the ipsilateral microcornea)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Probably due to hyaloid remnants None None
16
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?
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Probably due to hyaloid remnants None None
17
Abnormalities of Pupil Structure18
Coloboma
Atypical Typical
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Probably due to hyaloid remnants None None
19
?
?
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
20
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
21
?
?
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
22
Abnormalities of Pupil Structure23
Coloboma
Right eye illustrating optic disc coloboma (small arrow) and two retinochoroidal colobomas (large arrows)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
24
?
?
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Location Etiology Associated abnormalities Workup
Typical iris coloboma Inferonasal
Incomplete closure of
embryonic fissure
Colobomas of CB, choroid, optic nerve, retina; nystagmus
If 1+ other organ system abnormal:
Do karyotype analysis with
extended banding
Atypical iris coloboma
Anywhere butinferonasal
Multiple etiologies implicated None None
25
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
26
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
27
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a… sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
28
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
29
Abnormalities of Pupil Structure30
True polycoria
Eye in bright light (A) and dim light (B). Following dilatation with tropicamide and phenylephrine (C,D)
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
31
Abnormal Pupil…Location--Corectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OK--Corectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
32
Abnormalities of Pupil Structure33
Pseudopolycoria in ICE syndrome
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKassociated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
34
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
35
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
36
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite
directions--pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
37
Abnormalities of Pupil Structure38
Corectopia
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
39
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral diseaseb) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
40
3 high-yield facts aboutectopia lentis et pupillae
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
41
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
What abnormality of lens shape is present?Microspherophakia
How is the pupil dyscoric, ie, what is its shape?Slit-like
42
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
What abnormality of lens shape is present?Microspherophakia
How is the pupil dyscoric, ie, what is its shape?Slit-like
43
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
44
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
45
Abnormalities of Pupil Structure46
Ectopia lentis et pupillae: Bilateral inferonasal displacement of dyscoric, slit-like(ish) pupils
Abnormalities of Pupil Structure47
Ectopia lentis et pupillae: Pupil and lens displaced in opposite directions
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
48
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
49
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
50
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
51
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormalities of Pupil Structure52
Microspherophakia. Note the small size, round shape of the lens
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
53
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
54
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormalities of Pupil Structure55
Microspherophakia. Lens is able to fit through the pupillary aperture with mydriasis
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
56
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
57
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
58
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
59
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
60
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
61
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
Abnormalities of Pupil Structure62
Weill-Marchesani syndrome: Short stature
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
63
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
64
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
Abnormalities of Pupil Structure65
Weill-Marchesani syndrome: Short digits
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
66
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
67
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
Abnormal Pupil…LocationCorectopia = displacement of pupil--Slight (.5mm) inferonasal deviationis normal
--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral disease b) Pupil and lens displaced in opposite
directionsc) Pupils often dyscoric
Abnormalities of Pupil Structure
Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction
--Associated with multiple congenitalocular abnormalities
2) Congenital mydriasis--Probably part of the aniridia spectrum
Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil
--e.g., coloboma
Pupil structure abnormality
Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)
--Pseudopolycoria accounts forthe vast majority of cases
What directions are the pupils and lenses displaced?Pupils inferotemporal, lenses superonasal
How is the pupil dyscoric, ie, what is its shape?Slit-like
What abnormality of lens shape is present?Microspherophakia
68
In a few words, how would you describe the shape of a microspherophakic lens?The name says it all: the lens is small (‘micro’) and round (‘sphero’)
What common slit-lamp observation owes to the lens’ small size?Typically, the entirety of the lens equator can be seen in the pupillary aperture when the pt is widely dilated
How does refractive status manifest the lens’ spherical shape?Pts are usually highly myopic
When you hear microspherophakia, what condition should come immediately to mind?Weill-Marchesani syndrome
What is the classic stature of a W-M pt?Quite short
What is notable about their digits?They are short as well
What is notable about their joints?They are stiff
For more on W-M, see slide-set FELT14
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