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Article

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2026

Chou Jeremy J, Heath Jeffery Rachael C, Thompson Jennifer A, McLenachan Samuel, Chelva Enid S, Lamey Tina M, McLaren Terri L, Chen Fred K

Abstract excerpt

PURPOSE: To report an Australian family with congenital stationary night blindness (CSNB, OMIM#139,330) harbouring a novel GNAT1 c.599A > G (p.Gln200Arg) variant. In contrast to previous case reports we observed a fundus sheen, outer retinal changes and electrophysiological features of cone dysfunction in addition to a Riggs-type CSNB. METHODS: Ophthalmic history, clinical examination and multimodal imaging...

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Identifiers

PMID: 41954843
DOI: 10.1007/s10633-026-10100-2
PMCID: PMC13194308

Genes

GNAT1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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