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Article

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.

Molecular vision - 1 Jan 2012

Waheed Nadia K, Qavi Ahmed H, Malik Sarah N, Maria Maleeha, Riaz Moeen, Cremers Frans P M, Azam Maleeha, Qamar Raheel

Abstract excerpt

PURPOSE: Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE). METHODS: Mutation analysis was done by sequencing two candidate genes,...

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Source

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Identifiers

PMID: 22665972
PMCID: PMC3365131

Genes

SAG
GRK1
MTHFR
DST

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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