Tuesday, September 9, 2008

What about sporadic retinoblastoma?

Familial Retinoblastoma With Unilateral and Unifocal Involvement in 2 Families
Shaden Sarafzadeh, MD; Zélia M. Corrêa, MD, PhD; James J. Augsburger, MD

Arch Ophthalmol. 2008;126(9):1308-1309.

Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Retinoblastoma is a malignant ocular tumor of childhood that occurs in approximately 1 in 18 000 children.1 Approximately 40% of patients with retinoblastoma have inherited a germ-line mutation of the RB1 gene (gene map locus 13q14.1-q14.2) (OMIN+180200), and approximately 85% of them develop bilateral tumors.2 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.


This is a retrospective report of 2 families without a history of retinoblastoma in which both children in each family developed unifocal unilateral retinoblastoma.

Two sets of siblings (n = 4) developed unifocal unilateral retinoblastoma and neither family had a history of retinoblastoma. The first affected sibling in each family was male and received his diagnosis at age 11 months in family 1 and at age 10 . . . [Full Text of this Article]

Family 1

Family 2




© 2008 American Medical Association. All Rights Reserved.



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