[Family investigation and clinical genetic analysis of a large pedigree with congenital stationary night blindness].
A large pedigree of congenital stationary night blindness (CSNB) was investigated by both the family method and the family history method, and the diagnosis was confirmed by dark adaptation and full-field electroretinogram tests. There were 57 affected members of 7 successive generations in the pedigree which showed typical autosomal dominant inheritance with a complete gene penetrance. Based on this study and other sources, the genetic aspect and the clinical manifestations of CSNB, especially the characteristics of dark adaptation and electroretinogram, were discussed.
Fei
Y J
YJ
Department of Ophthalmology, West China University of Medical Sciences, Chengdu, Sichuan Province.
D000328:Adult; D003623:Dark Adaptation; D004596:Electroretinography; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree