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
DREWS RC. Transmission of Retinoblastoma by Nonaffected Members of a FamilyA Family History. Arch Ophthalmol. 1962;68(3):329-330. doi:10.1001/archopht.1962.00960030333005