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Article

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.

International journal of molecular sciences - 21 Feb 2021

Kobal Nina, Krašovec Tjaša, Šuštar Maja, Volk Marija, Peterlin Borut, Hawlina Marko, Fakin Ana

Abstract excerpt

Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical...

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Identifiers

PMID: 33669941
DOI: 10.3390/ijms22042133
PMCID: PMC7924842

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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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