ESTIMATES of the frequency of retinoblastoma range from one case in every 34,000 births to one case in every 14,000 births.1 The familial incidence is only about 6% of the sporadic incidence.2 The frequency of congenital cataracts has not been well documented, but according to Francois,3(p321) only about 25% of all cases are hereditary. The simultaneous occurrence of the hereditary forms of both of these disorders would seem to be both theoretically and actually extraordinarily rare, no similar cases having been found in the ophthalmic literature. This particular combination of genetically determined defects presents unusually challenging diagnostic and therapeutic difficulties.
Report of a Case
A 3½-month-old girl, born Dec 18, 1967, presented to us on April 4, 1968, for treatment of bilateral cataracts which had been noted shortly after birth.The family history indicated that the propositus represented the fourth generation of congenital cataracts in her kinship
Friendly DS, Parks MM. Concurrence of Hereditary Congenital Cataracts and Hereditary Retinoblastoma. Arch Ophthalmol. 1970;84(4):525-527. doi:10.1001/archopht.1970.00990040527026