title: A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
abstract: More than 100 mutations within the rhodopsin gene have been found to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that may eventually result in total blindness. Congenital stationary night blindness (CSNB) is an uncommon inherited retinal dysfunction in which patients complain of night vision difficulties of a nonprogressive nature only and in which generally there is no involvement of day vision. We report the results of molecular genetic analysis of an Irish family segregating an autosomal dominant form of CSNB in which a previously unreported threonine-to-isoleucine substitution at codon 94 in the rhodopsin gene was found to segregate with the disease. Computer modeling suggests that constitutive activation of transducin by the altered rhodopsin protein may be a mechanism for disease causation in this family. Only two mutations within the rhodopsin gene have been previously reported in patients with congenital stationary night blindness, constitutive activation also having been proposed as a possible disease mechanism.
authors.affiliation: Wellcome Ocular Genetics Unit, Trinity College, Dublin, Ireland.
authors.forename: N
authors.initials: N
authors.lastname: al-Jandal
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: A S
authors.initials: AS
authors.lastname: Kiang
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: N
authors.initials: N
authors.lastname: Bannon
authors.forename: J B
authors.initials: JB
authors.lastname: Findlay
authors.forename: P
authors.initials: P
authors.lastname: Humphries
authors.forename: P F
authors.initials: PF
authors.lastname: Kenna
mesh_terms: D019943:Amino Acid Substitution; D003198:Computer Simulation; D003623:Dark Adaptation; D005260:Female; D006801:Humans; D007494:Ireland / Q000208:ethnology; D007532:Isoleucine; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009755:Night Blindness / Q000151:congenital* / Q000208:ethnology / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012243:Rhodopsin / Q000235:genetics*; D013912:Threonine
chemical_list: D007532:Isoleucine; D013912:Threonine; D012243:Rhodopsin