LeukocoriaPresented ByAsa RairistiI11108052

DefinitionLeukocoria may be a common sign in

various ocular conditions and may be characterized

by a whitish pupillary reflex (leukos: white, kore: pupil) that differs from the normal red ocular reflex.

Shields JA, Shields CL, Parsons HM. Retina 1991;11:232-43

Congenital Cataract

•Opacity of the lens at birth, either hereditary or acquired throughout the placenta

Signs :LeukocoriaNystagmusStrabismusBlunted red reflex

etiology• Idiopathic (most common).• Familial, autosomal dominant.• Galactosemia: Cataract may be the sole manifestation

when galactokinase deficiency is responsible. • PHPV: Unilateral. The involved eye is usually slightly

smaller than the normal fellow eye. • Rubella: “Pearly white” nuclear cataract, “salt-and-pepper”

chorioretinitis, microphthalmos, corneal clouding, and poorly dilating pupils. Associated hearing defects and heart abnormalities are common.

• Lowe syndrome (oculocerebrorenal syndrome): Opaque lens, congenital glaucoma, renal disease, and mental retardation. X-linked recessive.

• Others: Chromosomal disorders, systemic syndromes, other intrauterine infections, trauma, drugs, other metabolic abnormalities, aniridia, anterior segment dysgenesis, radiation.

Type of Cataract

Coronary cataract : Single or multiple finger- or bowling pin-shaped opacities that ring the peripheral cortex

Cerulean cataract : Small, bluish punctate opacities of the peripheral cortex (anterior, posterior or both)

Treatment• Referral to a pediatrician to treat any underlying

disorder.• Treat associated ocular diseases.• Cataract extraction, • Treat amblyopia in children younger than 9 to 11

years• A dilating agent (e.g., phenylephrine 2.5%, t.i.d.,

homatropine 2% t.i.d., or scopolamine 0.25% q.d.) may be used as a temporizing measure, allowing peripheral light rays to pass around the lens opacity and reach the retina. This rarely is successful long-term.

Retinoblastoma

•Retinoblastoma is a tumor that originates from immature retinoblasts in the neural retina; it is the most frequent intraocular tumor in children.

•The incidence ranges from 1/14,000 to 1/20,000 live births, depending on the country

•Over 90% of cases are diagnosed before age 5 years

Retinoblastoma2

• Affects infants and children.

• Leukokoria in one or both eyes.  

• White retinal tumor fed and drained by dilated, tortuous retinal blood vessels.  

• Well-established tendency to invade optic nerve and choroid, extend extrasclerally, invade the brain, and metastasize.

• Unilateral (60–70%) or bilateral (30–40%) ocular involvement; most unilateral cases are unifocal, and most bilateral cases are multifocal in both eyes.

• Germinal (heritable, 40%) and somatic (nonheritable, 60%) forms. • Autosomal dominant inheritance pattern in germinal cases.

• Attributable to loss or inactivation of both alleles of retinoblastoma gene, a tumor suppressor gene on the long arm of chromosome 13.

Clinical presentations

•leukocoria (from 60 to 80% of cases)•Strabismus•red eyes•enlarged ocular globe due to increased

intraocular pressure•loss of vision•Less common forms are : aseptic orbit

cellulitis due to tumor necrosis, altered color of the iris (heterochromia), intraocular bleeding and pseudouveitis.

Diagnosis•Family history•Ophthalmoscopy A grayish

white, vascularized retinal tumor

•CT –scan detecting calcium within the tumor•Ultrasoundthe size of the lesions and may

find calcification within the tumor •MRI extraocular involvement and invasion of

the optic nerve

Treatment• Intravenou chemotherapy • Enucleation    • Radiation therapy • External beam radiation therapy • Plaque radiotherapy  • Laser therapy • Photocoagulation • Transpupillary thermotherapy (TTT)   • Cryotherapy    • Observation (for spontaneously arrested

retinoblastoma, retinoma)

RETINOPATHY OF PREMATURITY (ROP)

• Vasoproliferative retinopathy affecting premature infants exposed to high oxygen

• ROP affects immature blood vessels of the retina. It occurs weeks after birth

INCIDENCE • 47% in infants with birth weights between 1000

and 1251g , 81.6% for infants weighing less than 1000g (2lb3oz) at birth.

• 80% of infants born at less than 28 weeks’ gestational age, 60% of infants born at 28-31weeks developed ROP

• Oxygen duration

RETINOPATHY OF PREMATURITY (ROP)

LOCATION• zone 1 - centred on

disc, 2x disc to fovea distance

• zone 2 - outer limit equator temporally, ora nasally

• zone 3 - temporal peripheral crescent –

  1.    Screening birth weight less than 1500g or a gestational age of 32weeks or less, as well as in infants weighing between 1500g and 2000g with an unstable clinical course and who are believed to be at high risk.   2. immature retinas (no ROP) vascularized into zone 2 or 3 may be examined at 2-week intervals3.  type 2 prethreshold disease weekly or twice weekly exams 4. type 1 prethreshold disease peripheral laser ablation.5. Stages 4 and 5: Surgical repair of retinal detachment by scleral buckling, vitrectomy surgery, or both

Coat’s Disease

•A localized, congenital, retinal vascular disorder consisting of abnormal telangiectatic segments of blood vessels that result in leakage

Characteristic

•Retinal telangiectasia•Retinal capillary nonperfusion•Dilated intercapillary spaces.•Lipid exudate•Leukokoria•Subretinal fluid•Usually unilateral•Male predominance•Fibrovascular macular scars   

DiagnoseClinical manifestation :•poor vision•Strabismus•LeukokoriaExamination :ophthalmoscopically vascular

abnormalities are seen in association with lipid deposition and subretinal exudate

Ancillary testingFluorescein angiography is a useful tool for delineating the nature and extent of the vascular abnormalities present in this disease.

Classification Shield et al :• Stage 1 : retinal telangiectasia only• Stage 2 : telangiectasia & exudation

▫A : extrafoveal exudation▫B : foveal exudation

• Stage 3 : exudative retinal detachment▫A : Subtotal retinal detachment▫B : Total retinal detachment

• Stage 4 : total retinal detachment & glaucoma

• Stage 5 : advanced end-stage disease

Treatment

•The main goal : to obliterate the telangiectasiae to facilitate the reabsorption of exudates and maintain as much visual acuity as possible

•Laser photocoagulation or cryotherapy to destroy anomalous vasculature.

• intravitreal proliferation and traction detachment vitreous surgery may improve the clinical course

Prognosis

can be measured in terms of two endpoints: visual acuity and anatomical stability

•central visual acuity is frequently poor in macular lipid deposition.

•retaining anatomical integrity of the globe is much better.

• The worst outcomes are in juvenile cases of total retinal detachment.

PHPV jurnal• developmental malformation of the eye where the

embryological primary vitreous and hyaloid vasculature fail to regress.

• Persistent hyperplastic primary vitreous (PHPV) is a rare,non-hereditary,

• It presents unilaterally in 90% of cases and can be associated with microphthalmia and cataract formation.

• It is usually not associated with other congenital defects.

• In the majority of cases the fibrovascular membrane, fed by the persistent hyaloid artery, adheres to the posterior capsule of the crystalline lens.

•A gray-yellow retrolental membrane may produce leukocoria, with the subsequent suspicion of retinoblastoma.

PHPVDiagnostic Consideration•Based on the characteristic clinical

picture (symptoms and findings) and additional ultrasound studies (when the posterior segment is obscured by lens opacities)

TreatmentTreatment options include cataract

surgery and removal of the fibrovascular membrane.

Ocular Toxocariasis Handbook of Pediatric•Ocular toxocariasis is a unilateral

disorder that presents as strabismus, leukocoria or decreased vision.

•May present as posterior chorioretinitis, peripheral chorioretinitis, papillitis, neuroretinitis, endophthalmitis, motile chorioretinal nematode or diffuse unilateral subacute neuroretinitis,

•Keratitis, conjunctivitis and lens involvement have also been described

INCIDENCEToxocariasis is the most common nematode

infection affecting the eye in the United States; however, the exact incidence of ocular toxocariasis in unknown.

ETIOLOGYMost cases of human toxocariasis are caused

by infection with the dog intestinal roundworm Toxocara canis or, rarely, the cat.Ocular toxocariasis results from invasion of the eye by the second- or third-stage larva of the

nematode.

Clinical Features•80% less than 16 years.•Another common manifestation is chronic

endophthalmitis.•often present anterior uveitis, hypopyn,

posterior synechiae, cyclitic membrane, vitritis, and retinal detachment.

•Leukocoria because of the severe inflammatory reaction

•decreased visual Acuity•amblyopia,•strabismus as a result of damage to the

macula.

Systemic manifestation

•known as visceral larval migrans (VLM). •occurs most commonly in children less than

6 years •eosinophilia,• fever•hepatosplenomegaly•If ocular disease and VLM are both

present, flu-like symptoms•Less common manifestations pulmonary

symptoms, splenomegaly, and seizures.

• The most common presentation is a unilateral granuloma of the posterior pole or peripheral retina typically round, elevated, andup to two disc diameters in size

• Vitritis • Peripheral granuloma hazy white elevated lesions located in the

peripheral retina.• Peripheral granuloma located in the inferior retina may resemble

pars planitis in some children• Vitreous membranes are often visible radiating from the

peripheral lesion and may form radial retinal folds extending to the optic nerve head.

Toxocara canis retinitis.Toxocara canis- elevated granuloma

Diagnosis

•Diagnosis is based upon clinical features observed in a young patient and should be confirmed at least by the presence of specific IgG in the serum (ELISA test, 90% specificity and 91% sensibility).

Treatment

•based on : severity of inflammation, macular involvement, and the visual potential of the eye.

•periocular or systemic corticosteroids active vitritis

• topical corticosteroids and cycloplegic agents anterior uveitis, Thiabendazole at 50mg/kg/day for 7 days may be considered in children who fail to respond to systemic corticosteroid therapy

•antihelminthic therapy potential toxicity•Surgical procedures refractory vitritis,

vitreous membranes, epiretinal membrane, and traction or rhegmatogenous retinal detachment.

Retinal detachment

•Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue

•incidence : 1:10 000 •Variety of ocular and systemic disorders

are associated with pathological vitreous liquefaction, premature vitreous detachment, and extensive sites of vitreoretinal adhesion

Pathophysiology• extensive liquefaction within the vitreous

cavity reduction in both the shock-absorbing capabilities and the stability of the gel associated by aging

Accelerated vitreous liquefaction :• significant myopia• post cataract surgery (40%)• severe ocular trauma (10-15 %)• intraocular inflammation • a variety of other congenital, inherited, or

acquired ocular disorders.

Pathology

Classical pathogenesis of rhegmatogenous retinal detachment. The detached vitreous gel has caused a retinal tear by exerting traction upon the retina at the site of a vitreoretinal adhesion. Liquid in the vitreous cavity passes through the break into the subretinal space.

• Rhegmatous retinal detachment

• Traction retinal detachment

• Exudative retinal detachment

• Combined retinal detachment

Treatment

•scleral buckling techniques and the creation of a chorioretinal adhesion around each break to eliminate and counteract vitreoretinal traction

•Vitrectomy techniques•Pneumatic retinopexy

Optic Disk Coloboma•An optic disk coloboma is the result of

incomplete closure of the embryonic optic cup.• The optic disk is enlarged with a funnel-

shaped depression with whitish tissue and a peripapillary pigment ring.

•The retinal vessels extend outward across the margin of the disk in a radial pattern without a central trunk vessel.

•Patients with optic disk coloboma often have decreased visual acuity and visual field defects.

•retinochoroidal colobomas that has received particular attention CHARGE syndrome (coloboma, heart disease, atresia choanae, retarded growth, genital hypoplasia, ear anomalies, with or without deafness

Norrie disease•Norrie disease, or the progressive

oculoacousticocerebral degeneration of Norrie, is a rare, X-linked recessive heritable disorder characterized by bilateral leukocoria caused by retinal detachment.

•Affected boys classically have a triad of blindness, deafness, and mental retardation.

• Apparent at birth or in early infancy, the ocular findings usually progress to phthisis bulbi.

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