Ontology highlight
ABSTRACT:
SUBMITTER: Zeitz C
PROVIDER: S-EPMC1592568 | biostudies-literature | 2006 Oct
REPOSITORIES: biostudies-literature
Zeitz Christina C Kloeckener-Gruissem Barbara B Forster Ursula U Kohl Susanne S Magyar István I Wissinger Bernd B Mátyás Gábor G Borruat François-Xavier FX Schorderet Daniel F DF Zrenner Eberhart E Munier Francis L FL Berger Wolfgang W
American journal of human genetics 20060823 4
Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from photoreceptors to adjacent second-order neurons have been shown to cause congenital stationary night blindness (CSNB). Sequence alterations in CACNA1F lead to the incomplete type of CSNB (CSNB2), which can be distinguished by standard electroretinography (ERG). CSNB2 is associated with a reduced rod b-wave, a substantially reduced cone a-wave, and a reduced 30-Hz flick ...[more]