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September 1962

Transmission of Retinoblastoma by Nonaffected Members of a Family: A Family History

Author Affiliations

St. Louis
From the Department of Ophthalmology and the Oscar Johnson Institute, Washington University School of Medicine.

Arch Ophthalmol. 1962;68(3):329-330. doi:10.1001/archopht.1962.00960030333005

There are several papers in the literature which summarize our present knowledge of the genetic transmission of retinoblastoma.1-5 Most family trees published are remarkable for their small size. Of particular interest is the finding by Macklin4 that with sufficient development of the family history about 10% of so-called sporadic cases are found to have affected collateral lines. The recognition of transmission of retinoblastoma by nonaffected parents remains unusual. Falls and Neel5 reported only 1 such kindred in their extensive study (53 families).

Report of Case  I had the opportunity of caring for a 17-month-old negro female who presented with a "cat's-eye" pupillary reflex and an esotropia, both said to have been of 9 months' duration. Examination under anesthesia showed a white, vascularized mass in the posterior pole encroaching on the optic nerve. Enucleation was performed, and the diagnosis of retinoblastoma was confirmed. Invasion of the optic nerve

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