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Article

USH2A-retinopathy: From genetics to therapeutics.

Experimental eye research - 1 Dec 2020

Toualbi Lyes, Toms Maria, Moosajee Mariya

Abstract excerpt

Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod photoreceptor loss resulting in nyctalopia and a constricted visual field, followed by subsequent cone degeneration, leading to the loss of central vision and severe visual impairment. The USH2A gene raises many challenges for researchers...

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Identifiers

PMID: 33121974
DOI: 10.1016/j.exer.2020.108330
PMCID: PMC8417766

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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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