title: A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family.
abstract: Summary A pedigree of congenital stationary night blindness (CSNB) is described in a large Chinese family. The clinical description, pedigree, dark adaptation and elctroretinogram (ERG) studies indicate that the patients have an autosomal dominant form (ad) of CSNB. The disorder has been transmitted through at least 12 generations with over 40 affected individuals identified. The ERG data reveal that affected persons have severely diminished b-wave responses to dim light, but normal a-wave and subnormal b-wave responses to maximum light stimuli. The dark adaptation curves of three patients show a monophase curve, typical for night blindness. We have excluded the five previously known mutations in the three genes (RHO, PDE6B and GNAT1) associated with adCSNB, and linkage studies have excluded tight linkage between the disease locus and markers associated with these three genes. Thus, this family has adCSNB caused by a different gene from the previously identified RHO, PDE6B, and GNAT1.
authors.affiliation: Eye Hospital, School of Optometry and Ophthalmology, Wenzhou Medical College, Wenzhou, Zhejiang 325003, PR China.
authors.forename: X
authors.initials: X
authors.lastname: Liu
authors.forename: S
authors.initials: S
authors.lastname: Zhuang
authors.forename: S
authors.initials: S
authors.lastname: Hu
authors.forename: F
authors.initials: F
authors.lastname: Zhang
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: D
authors.initials: D
authors.lastname: Xu
authors.forename: S-H
authors.initials: SH
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002681:China; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D003623:Dark Adaptation / Q000502:physiology; D004596:Electroretinography; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree