Pathophysiology
1) neoplasm originating in retinal neurons 2) malignant spread is either via the optic nerve into the cranial vault or via the blood system (hematogenously) 3) able to grow toward vitreous body (endophytic) or between retinal layers (exophytic)
Signs and Symptoms
1) white pupil reflex (leukocoria) 2) red and painful eye 3) squinting 4) vision loss 5) detached retina 6) cat’s eye reflex (yellowish glint in eye)
Characteristic Test Findings
Funduscopic exam – 1) mass 2) detached retina
Histology/Gross Pathology
1) whitish tumor mass with chalk-like flecks (calcification) 2) morphologically can have Flexner-Wintersteiner rosettes (radial cells around central cavity) or a fleur-de-lis pattern
Associated Conditions
1) secondary glaucoma in affected eye 2) metastasizes to bone marrow 3) inherited form – increase incidence in Ewing’s sarcoma, pinealoblastoma, and osteogenic sarcoma
Inheritance/Epidemiology
1) occurs in 1: 20,000 to 1:34,000 2) presents at birth or in first 2 years of life 3) most cases sporadic, but 6-8% familial 4) bilateral 30% of time in familial disease 5) cause is defect in retinoblastoma tumor suppressor gene on 13q14
Treatment
if treated early with enucleation, survival rate is 90%
Tips for USMLE
if a 2 year old girl has been squinting for the past 2 weeks and then starts rubbing a reddish left eye that has a milky tint to the pupil, think retinoblastoma
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