Article
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Ophthalmic genetics - 1 Oct 2019
Kubota Daiki, Oishi Noriko, Gocho Kiyoko, Kikuchi Sachiko, Yamaki Kunihiko, Igarashi Tsutomu, Takahashi Hiroshi, Ishida Nobuo, Iwata Takeshi, Mizota Atsushi, Kameya Shuhei
Abstract excerpt
Background: The GNAT1 gene encodes the alpha-subunit of transducin in rod photoreceptors and is an important part of the phototransduction cascade. Defects in GNAT1 are very rare but have been identified in autosomal dominant and recessive congenital stationary night blindness (CSNB) and autosomal recessive rod-cone dystrophy. The purpose of this study was to determine the phenotype-genotype relationship in a...
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