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Article

A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.

Molecular vision - 1 Jan 2012

Huang Lingli, Li Wen, Tang Weilin, Zhu Xiaohua, Ou-Yang Pingbo, Lu Guangxiu

Abstract excerpt

PURPOSE: Oguchi's disease is a rare autosomal recessive disease and known to be caused by mutations in the rhodopsin kinase (GRK1) gene or the arrestin (SAG) gene. SAG contains 16 exons and encodes a protein with 405 amino acids. This study was to identify the underlying genetic defects in a non-consanguineous Chinese family with Oguchi's disease. METHODS: Ophthalmologic examinations including fundus photography...

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Source

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Identifiers

PMID: 22419846
PMCID: PMC3298420

Genes

SAG
GRK1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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