title: [Congenital stationary night blindness].
abstract: The clinical and electrophysiological data in 48 cases of congenital stationary night blindness (CSNB) are analysed. The existence of the complete (with only the cone part of the dark adaptation curve) and incomplete (some rod activity also present) form of this anomaly has been confirmed. The Schubert-Bornschein's type of ERG responses corresponds to the complete CSNB. After 12 years of observation period in some patients the diminution of both the a and b potential of the ERG curves but not the extinction of the ERG potentials has been found. PERG curves and PVEP responses in CSNB are normal. Two pedigrees of CSNB are presented. The first reflects the autosomal dominant mode of heredity in 4 generations, in the second pedigree (5 generations) it is not possible to estimate the mode of heredity.
authors.affiliation: Katedra ocního lékarství LF UK, Hradec Králové.
authors.forename: J
authors.initials: J
authors.lastname: Svĕrák
authors.forename: R
authors.initials: R
authors.lastname: Jebavá
authors.forename: J
authors.initials: J
authors.lastname: Peregrin
authors.forename: J
authors.initials: J
authors.lastname: Zizka
authors.forename: M
authors.initials: M
authors.lastname: Hartmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
vernacular_title: Kongenitální stacionární nocní slepota.