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Retinoblastoma is a malignant ocular tumor of childhood that occurs in approximately 1 in 18 000 children. Approximately 40% of patients with retinoblastoma have inherited a germ-line mutation of the RB1 gene (gene map locus 13q14.1q14.2) (OMIM 180200), and approximately 85% of them develop bilateral tumors. We report on the cases of 2 children from 2 different families; all 4 of these children developed unilateral unifocal retinoblastoma despite no family history of retinoblastoma.

Familial Retinoblastoma With Unilateral and Unifocal Involvement in 2 Families