Abstract
Ten survivors of sporadic bilateral retinoblastoma had 14 offspring, of whom eight were affected, seven of them in both eyes. Other reports from the literature raise the total of similar unselected cases to 19 survivors with a total of 39 offspring, of whom 17 were affected in both eyes and three in one eye.
The high incidence of the bilateral affection in dominantly inherited retinoblastoma—as recorded in the literature—and in the offspring of survivors from sporadic bilateral retinoblastoma, as reported in the present study, establish all cases of bilateral retinoblastoma as a dominant disorder either in transmission or as a new mutation. This disorder, though fully or almost fully penetrant, is not always fully expressed. A small proportion, probably about 5 to 10% of all cases of the much more common sporadic unilateral affection, are in fact incompletely expressed germinal mutations for bilateral retinoblastoma. There is some evidence that histological appearances may distinguish these potentially transmissible unilateral tumours from the mass of unilateral retinoblastoma which have no genetic significance.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Cumings J. N., Sorsby A. UNILATERAL AND BILATERAL RETINOBLASTOMA A Possible Histological Difference. Br J Ophthalmol. 1944 Nov;28(11):533–537. doi: 10.1136/bjo.28.11.533. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Griffith A. D., Sorsby A. THE GENETICS OF RETINOBLASTOMA. Br J Ophthalmol. 1944 Jun;28(6):279–293. doi: 10.1136/bjo.28.6.279. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nielsen M., Goldschmidt E. Retinoblastoma among offspring of adult survivors in Denmark. Acta Ophthalmol (Copenh) 1968;46(4):736–741. doi: 10.1111/j.1755-3768.1968.tb02871.x. [DOI] [PubMed] [Google Scholar]
- Schappert-Kimmijser J., Hemmes G. D., Nijland R. The heredity of retinoblastoma. Ophthalmologica. 1966;151(2):197–213. doi: 10.1159/000304891. [DOI] [PubMed] [Google Scholar]