Leukocoria
H. Christian Davidson, MD
DIFFERENTIAL DIAGNOSIS
Common
Retinoblastoma
Less Common
Retinal Detachment
Retinopathy of Prematurity
Persistent Hyperplastic Primary Vitreous
Coats Disease
Coloboma
Congenital Cataract
Rare but Important
Toxocariasis, Orbit
Ocular Melanoma, Amelanotic
Retinal Dysplasia
ESSENTIAL INFORMATION
Helpful Clues for Common Diagnoses
Retinoblastoma
Key facts
Primary retinal malignancy, PNET type
Most common childhood ocular tumor
60% sporadic; 40% inherited
RB1 gene mutation
Imaging
Punctate, speckled, or flocculent calcification in > 90%
Strong enhancement
Retinal detachment not unusual
Unilateral in 75%
Look for coincident contralateral, suprasellar, or pineal tumor in patients with inherited disease
Helpful Clues for Less Common Diagnoses
Retinal Detachment
Key facts
Separation between inner sensory retina and outer pigmented epithelium
Myriad etiologies, including vascular, inflammatory, neoplastic, congenital, traumatic, and other processes
3 mechanisms: Rhegmatogenous (tear), tractional (adhesions), and exudative (tumor or inflammation)
Imaging
Detached retina bulges toward vitreous, with underlying biconvex collection
Leaves of retina converge at optic disk, resulting in “V” contour
Signal varies depending on content
Often bloody or proteinaceous fluid
Hyperdense on CT
Hyperintense on most MR sequences
Retinopathy of Prematurity
Key facts
Synonym: Retrolental fibroplasia
Fibrovascular proliferation of immature retina, presumably related to hyperoxia of extrauterine NICU environment
Imaging
Microphthalmia
Retinal detachment common, often with blood-fluid levels
Ca++ rare except in advanced stages
Persistent Hyperplastic Primary Vitreous
Key facts
Primary vitreous = fetal ocular hyaloid vascular tissue
Normally regresses at 7 months gestation
Bilateral lesions typically syndromic, e.g., Norrie and Warburg syndromes
Imaging
Small globe
Hyperdense tissue in globe on CT
Hyperintense on T1WI and T2WI
Enhancing retrolental hyaloid remnant
Retinal detachment common
Coats Disease
Key facts
Underlying lesion is retinal telangiectasia
Subretinal exudate causes retinitis and subsequent detachment
Imaging
Retinal detachment is sine qua non
Hyperdense exudate on CT
Hyperintense on T1WI and T2WI
Occasionally calcifies (˜ 10%)
Coloboma
Key facts
Defect of embryonic ocular cleft
Syndromic associations (e.g., CHARGE)
Morning glory anomaly is variation
Excavated defect on funduscopy
Imaging
May occur anywhere in eye; defects at disc are visible on imaging
Defect at optic nerve head with outpouching of vitreous
May be associated with microphthalmia &/or secondary cyst
Congenital Cataract
Key facts
Opacification of lens that presents from birth to 6 months of age
Bilateral cataracts often syndromic, including genetic, metabolic, infectious, gestational, and other processes
Imaging
Best seen with direct visualization
Shape and location of lesion indicate timing and etiology of insult
Often limited to central portion of lens
Helpful Clues for Rare Diagnoses
Toxocariasis, Orbit
Key facts
Toxocara canis/cati (dog/cat roundworm)
Larvae migrate to eye from intestine
Sclerosing endophthalmitis with small eosinophilic abscess
Imaging
Uveoscleral thickening and nodularity
Subretinal exudate at site of larval infiltration, with variable hyperintensity
Ocular Melanoma, Amelanotic
Key facts
Primary uveal tract malignancy
Most common adult ocular tumor
Imaging
US for initial evaluation and surveillance
MR or CT to assess retrobulbar invasion
Less intrinsic T1 signal when amelanotic
Moderate enhancement
Retinal detachment common
Retinal Dysplasia
Key facts
Associated with congenital syndromes
Imaging
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