[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.