The inheritance of cataract in man, pedigree and interpretation

✍ Scribed by Edward T. Hornback; Charles F. Garis

• Publisher: John Wiley and Sons
• Year: 1933
• Tongue: English
• Weight: 797 KB
• Volume: 54
• Category: Article
• ISSN: 0362-2525
• DOI: 10.1002/jmor.1050540206

✦ Synopsis

Abstract

From a mating of first‐cousins, of whom the female had cataract, there issued in four generations a progeny of 138 individuals, 33 of whom had cataract (23.8 per cent). Discounting the last generation, about which little is known, also discounting other unknown members, there were 29 known unaffected, 30 known affected, i.e., 50.8 per cent had cataract. The pedigree by generations shows that cataract is inherited as an autosomal (Mendelian) dominant. However, the mode of inheritance is atypical in that the defective gene for cataract may be borne, and is so borne because transmitted, without producing in the bearer its characteristic defect. In the second generation there were four of a family of nine with cataract; of the five without cataract two produced cataractous offspring and three did not marry. The literature is replete with pedigrees in which cataract is inherited as a typical autosomal dominant; there are a few pedigrees (four are reproduced) in which the mode of inheritance, while distinctly that of an autosomal dominant, resembles the present pedigree in being atypical. It is concluded that cataract is inherited as an autosomal dominant, but that in some cases it is produced only under certain conditions. These conditions are as yet not definitely known. Clinical writers seem to favor the view that nutritional and endocrine disturbances predispose to the realization of the defect.