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Article

Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.

Documenta ophthalmologica. Advances in ophthalmology - 1 Oct 2020

Ballios Brian G, Weisbrod Daniel, Kohly Radha, Muni Rajeev H, Wright Tom, Yan Peng

Abstract excerpt

PURPOSE: The available literature regarding Oguchi disease is limited, with around 50 cases described to date. Caused by mutations to either the SAG gene coding for arrestin (Hayashi et al. in Ophthalmic Res 46:175-180, 2011) or the GRK1 gene coding for rhodopsin kinase (Yamamoto et al. in Nat Genet 15:175-178. https://doi.org/10.1038/ng0297-175 , 1997), Oguchi disease is an autosomal recessive condition with a...

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PMID: 32146548
DOI: 10.1007/s10633-020-09759-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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