1 abnormalities of pupil structure

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)

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Abnormal Pupil…Size--Congenital miosis (microcorea)--Due to dilator absence/malformation, or fibrous contraction


--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




Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a sphincter muscle (is exceedingly rare)


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Abnormal Pupil…Size1) Congenital miosis (microcoria)--Due to dilator absence/malformation, or fibrous contraction


2) Congenital mydriasis--Probably part of the aniridia spectrum Pupil structure

abnormality

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abnormality

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abnormality

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abnormality

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Abnormalities of Pupil Structure7

Congenital microcoria











abnormality

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abnormality

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abnormality

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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.









2) Congenital mydriasis--Probably part of the aniridia spectrum

Abnormal Pupil…Shape--Dyscoria = congenital misshapen pupil

--e.g., coloboma


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--e.g., coloboma


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--e.g., coloboma


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Dyscoria

Slit-shaped dyscoric pupil OS (note also the ipsilateral microcornea)











--e.g., coloboma


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

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?

?











--e.g., coloboma





embryonic fissure




extended banding




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Coloboma

Atypical Typical











--e.g., coloboma





embryonic fissure




extended banding




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?

?











--e.g., coloboma





embryonic fissure




extended banding



Multiple etiologies implicated None None

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--e.g., coloboma





embryonic fissure




extended banding




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?

?











--e.g., coloboma





embryonic fissure




extended banding




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Coloboma

Right eye illustrating optic disc coloboma (small arrow) and two retinochoroidal colobomas (large arrows)











--e.g., coloboma





embryonic fissure




extended banding




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?

?











--e.g., coloboma





embryonic fissure




extended banding




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--e.g., coloboma




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--e.g., coloboma




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--e.g., coloboma


Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a… sphincter muscle (is exceedingly rare)


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--e.g., coloboma


Abnormal Pupil…Number --Polycoria = >1 pupil--True polycoria requires thateach pupil has a…sphincter muscle (is exceedingly rare)


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True polycoria

Eye in bright light (A) and dim light (B). Following dilatation with tropicamide and phenylephrine (C,D)









--e.g., coloboma




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--e.g., coloboma




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Pseudopolycoria in ICE syndrome






--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





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--e.g., coloboma


--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillae--Bilateral disease --Pupil and lens displaced in opposite





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--e.g., coloboma







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--e.g., coloboma







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Corectopia






--e.g., coloboma


--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




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--e.g., coloboma


--Deviation up to 1mm considered OKCorectopia associated with lenssubluxation = ectopia lentis et pupillaea) Bilateral diseaseb) Pupil and lens displaced in opposite





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3 high-yield facts aboutectopia lentis et pupillae






--e.g., coloboma







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--e.g., coloboma




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

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--e.g., coloboma







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--e.g., coloboma







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--e.g., coloboma







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Ectopia lentis et pupillae: Bilateral inferonasal displacement of dyscoric, slit-like(ish) pupils


Ectopia lentis et pupillae: Pupil and lens displaced in opposite directions









--e.g., coloboma







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--e.g., coloboma







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--e.g., coloboma







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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









--e.g., coloboma







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Microspherophakia. Note the small size, round shape of the lens









--e.g., coloboma







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--e.g., coloboma







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Microspherophakia. Lens is able to fit through the pupillary aperture with mydriasis









--e.g., coloboma







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--e.g., coloboma







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--e.g., coloboma







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--e.g., coloboma







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--e.g., coloboma







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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









--e.g., coloboma







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Weill-Marchesani syndrome: Short stature









--e.g., coloboma







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--e.g., coloboma







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Weill-Marchesani syndrome: Short digits









--e.g., coloboma







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--e.g., coloboma







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--e.g., coloboma







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For more on W-M, see slide-set FELT14

1 abnormalities of pupil structure

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