Germline retinoblastoma without inherited gene mutation: a case report

Quintero-Estades, Jé.A.; Izquierdo, N.J.

Boletin de la Asociacion Medica de Puerto Rico 106(3): 32-35

2014


ISSN/ISBN: 0004-4849
PMID: 25470907
Document Number: 702699
Retinoblastoma is the most common primary ocular malignancy in childhood and can occur as a germline or somatic mutation. Recent studies have suggested a higher incidence of retinoblastoma in Hispanic children as compared to non-Hispanic white children of the same ages. We report the ocular findings of a 20 years old Hispanic male with a history of bilateral retinoblastoma. Although screening is currently performed with the red reflex test, analysis of current literature suggests the need to reassess screening recommendations for retinoblastoma.

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Germline retinoblastoma without inherited gene mutation: a case report