Abstract Retinoblastoma is a relatively rare disease, and one which is fraught with tragedy for both parents and patients. A study was made on the population of Ohio on the following points: (1) Did the mode of inheritance as exhibited in Ohio families confirm the findings of other workers that the disease was caused by a dominant incompletely penetrant gene? (2) What estimate could be made of the degree of penetrance? (3) What was the estimate of the mutation rate of the normal gene to one for retinoblastoma? (4) What was the frequency of the disease among the births in Ohio? Material for the Study The names of all the children who had been born in 1940 through 1956, and who had developed retinoblastoma by the end of 1958 were asked for, the requests being sent (1) to all registered ophthalmologists in Ohio, (2) to all hospitals apart from mental and References 1. Franceschetti, A., and Bischler, V.: Rétinoblastome et hérédité , Arch. Julius Klaus- Stiftg. Vererbungsforschg 21:332, 1946. 2. Falls, H. F., and Neel, J. V.: Genetics of Retinoblastoma , A.M.A. Arch. Ophth. 46:367-389 ( (Oct.) ) 1951.Crossref 3. Neel, J. V., and Falls, H. F.: The Rate of Mutation of the Gene Responsible for Retinoblastoma in Man , Science 114:419-422, (Oct. 19) , 1951.Crossref 4. Tucker, D. P.; Steinberg, A. G., and Cogan, D. G.: Frequency of Genetic Transmission of Sporadic Retinoblastoma , A.M.A. Arch. Ophth. 57:532-535 ( (April) ) 1957.Crossref 5. Vogel, F.: Über Genetik und Mutationsrate des Retinoblastoms (Glioma retinae), nebst einigen allgemeinen Bemerkungen über die Methoden zur Mutationsratenschätzung beim Menschen , Ztschr. menschl. Vererb. u. Konstitutionslehre 32:308-336, 1954.
A.M.A. Archives of Ophthalmology – American Medical Association
Published: Nov 1, 1959