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Article

Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.

Ophthalmic genetics - 1 Feb 2021

Radojevic Bojana, Jones Kaylie, Klein Martin, Mauro-Herrera Margarita, Kingsley Ronald, Birch David G, Bennett Lea D

Abstract excerpt

PURPOSE: In a cohort of eight families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in CNGB1. METHODS: Visual function was determined by measuring the patients' visual acuity, dark- and light-adapted perimetry, and by full-field electroretinography. Retinal structure was evaluated with spectral-domain optical coherence...

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Identifiers

PMID: 33465333
DOI: 10.1080/13816810.2020.1832532
PMCID: PMC7815954

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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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