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Shahar Frenkel, Jacob Pe'er; The clinical presentation of retinoblastoma patients with mosaics. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3672.
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© ARVO (1962-2015); The Authors (2016-present)
The clinical presentation of retinoblastoma differs between those with somatic and germline mutations in the RB1 gene. Extensive analysis is required to find mosaics who are at a risk for second and secondary malignancies as patients with germline mutations. We describe the clinical presentation of retinoblastoma in patients with mosaics vs. germinal and somatic cases.
We examined a cohort of 295 retinoblastoma patients who underwent genetic counseling and molecular analysis and evaluated the clinical presentation among the three groups. IRB approval was obtained to review patient information.
Nine patients were found to have 10-30% mutated cells in the peripheral blood. All but one had a stop codon. Five were diagnosed over 1 year of age (mean 35 months) and 4 under 1 year (mean 4 months). Six had unilateral disease. Three presented with strabismus and the rest with leukocoria, although none had macular involvement. There was a wide variability in the grouping of the eyes.
Older kids with unilateral disease and no macular involvement should be carefully assessed for mosaics.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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