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Article

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2020

Hayashi Takaaki, Hosono Katsuhiro, Kurata Kentaro, Katagiri Satoshi, Mizobuchi Kei, Ueno Shinji, Kondo Mineo, Nakano Tadashi, Hotta Yoshihiro

Abstract excerpt

PURPOSE: A single variant (p.G38D) in the GNAT1 gene, encoding the rod-specific transducin α-subunit in phototransduction, has been reported only in one French family with Nougaret-type autosomal dominant congenital stationary night blindness (CSNB). We identified a Japanese family with Nougaret-type CSNB and cone-rod dystrophy (CORD). METHODS: Five patients with CSNB and two patients with childhood-onset CORD...

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Identifiers

PMID: 31583501
DOI: 10.1007/s10633-019-09727-1

Genes

GNAT1
ERG
ABCA4

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