RETINOBLASTOMA: SOME GENETIC ASPECTS

Abstract

Summary 1. Between 1920 and 1954, 56 infants who had lost both eyes from bilateral retinoblastoma were admitted to the Sunshine Homes of the Royal National Institute for the Blind, constituting some 5 % of the total of admissions. 2. In 36 cases a relatively full family history could be established. Of 19 children born before 1937, three had died and two were in institutions for mental defectives, leaving 14 potential parents. Actually there were five marriages, and only one of these has so far resulted in the birth of a child. This child, like his father, is affected in both eyes. 3. Reviewing the data in this investigation in the light of other published series it is concluded that: (i) Most oases of retinoblastoma are unilateral and sporadic. (ii) Only exceptionally are the offspring of such patients affected. The risk is possibly of the order of 4%. (iii) When retinoblastoma is transmitted by a parent affected in one eye, the affected offspring commonly suffer from the trouble in both eyes. (iv) Bilateral retinoblastoma is seen both as an inherited and as a sporadic disorder. Data on the offspring of survivors from sporadic bilateral retinoblastoma are needed to establish whether these cases are indeed sporadic. In the inherited type, the offspring are almost always affected in both eyes. (v) There is no indication that retinoblastoma is primarily associated with either the mother's or the father's age; it is, however, possible that the affection is more often seen in the later birth ranks. (vi) The high mutation rates given by earlier observers must be discarded in favour of the considerably lower rate recently given by Vogel. We are indebted to Mr M. S. Colborne Brown, Education Officer of the Royal National Institute for the Blind and his staff, for making the investigation possible by the facilities and help they gave in following up the records at the Sunshine Homes. We are also indebted to Mr C. S. Petheram of the Welfare Department of the London County Council for additional information on London cases.

Keywords

Related Publications