Ocular Lesion
Kristine M. Mosier, DMD, PhD
DIFFERENTIAL DIAGNOSIS
Common
Retinoblastoma
Persistent Hyperplastic Primary Vitreous
Retinopathy of Prematurity
Congenital Cataract
Less Common
Coats Disease
Coloboma
Toxocariasis, Orbit
Congenital Microphthalmos
Rare but Important
Retinal Astrocytoma
Norrie Disease
Walker-Warburg Syndrome
ESSENTIAL INFORMATION
Helpful Clues for Common Diagnoses
Retinoblastoma
Key facts: Malignant tumor arising from neuroectodermal cells of retina
Classified as primitive neuroectodermal tumor (PNET)
Most common intraocular tumor of childhood
Most common cause of leukocoria
Rare trilateral or quadrilateral form involves bilateral globes + pineal, or pineal + suprasellar tumor
Imaging
Unilateral (70-75%)
CT: Punctate or speckled calcified intraocular mass
MR: T1 mildly hyperintense, T2 moderately hypointense (cf. vitreous); moderate to marked heterogeneous enhancement
Persistent Hyperplastic Primary Vitreous
Key facts: Congenital lesion due to incomplete regression of embryonic vitreous and blood supply
2nd most common cause of leukocoria
Imaging
Hyperdense or hyperintense small globe
No calcification
Retrolental enhancing soft tissue, classically with “martini glass” shape
Associated retinal detachments common
Retinopathy of Prematurity
Key facts: Occurs due to prolonged exposure to supplemental oxygen in premature infants
Premature birth interrupts normal vasculogenesis
incomplete vascularization of retina 
hypoxia 
abnormal neovascularization
Imaging
Usually bilateral
Hyperdense globe ± abnormal retrolental soft tissue
Early: Microphthalmia
Advanced: Vitreal calcification
Congenital Cataract
Key facts: Lens opacification
Most are sporadic and unilateral
˜ 20% familial
˜ 17% associated with systemic disease or syndrome: Trisomy 21, craniofacial syndromes, diabetes, etc.
Imaging
Small, hypodense lens
Lens may assume spherical shape (spherophakia), differentiating from acquired cataract
Helpful Clues for Less Common Diagnoses
Coats Disease
Key facts: Primary retinal vascular anomaly with retinal telangiectasis and exudative retinal detachment
Unilateral in 80-90% of patients
Most patients male
Imaging
Advanced stages may appear to obliterate vitreous
CT: Mild diffusely and homogeneously hyperdense vitreous without calcification
MR: Retinal detachment with nonenhancing T1 and T2 hyperintense subretinal exudate
Coloboma
Key facts: Defect in ocular tissue involving structures of embryonic cleft
Bilateral > unilateral
Imaging
Focal defect of posterior globe with outpouching of vitreous
Defect at optic nerve head insertion with funnel-shaped excavation
Toxocariasis, Orbit
Key facts: Eosinophilic granuloma caused by infection of larval nematode Toxocara cani or cati
Imaging
CT: Diffuse hyperdensity in vitreous ± discrete mass; no calcification
MR: Enhancing, variable T1 hypo/isointense, T2 iso/hyperintense retrolental or vitreous mass
Congenital Microphthalmos
Key facts: Corneal diameter of < 11 mm and anteroposterior diameter of globe < 20 mm at birth
Isolated
Or associated with craniofacial anomalies, coloboma, persistent hyperplastic primary vitreous, retinopathy of prematurity
Imaging
Overall volume and dimension of globe < unaffected side or comparison normal
Simple microphthalmia: Structurally normal small eye or complex with associated findings, as above
Helpful Clues for Rare Diagnoses
Retinal Astrocytoma
Key facts: Retinal astrocytic hamartoma is ocular manifestation of tuberous sclerosis complex
Imaging
Enhancing exophytic juxtapapillary or epipapillary retinal mass
Mass may be multifocal ± bilateral
Rarely may occur in isolation without tuberous sclerosis complex
Norrie Disease
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