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