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Article

A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family.

Ophthalmic genetics - 1 Jun 2026

Fathy Nada, Elbagoury Nagham M, Abdel-Hamid Mohamed S, ElKitkat Rania S, Shehab Azza A

Abstract excerpt

PURPOSE: This study aimed to report the clinical, electrophysiological, and genetic findings in two siblings of an Egyptian family with type 2 Oguchi disease, with multimodal imaging performed for proper evaluation. METHODS: Two siblings of consanguineous parents presented with poor night vision underwent full ophthalmological examination, ultra-widefield fundus photography, fundus autofluorescence (FAF) and...

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Source

Identifiers

PMID: 41520369
DOI: 10.1080/13816810.2025.2612272

Genes

GRK1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian family.PMID 41520369Read ↗

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