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Article

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Ophthalmology. Retina - 1 Jul 2024

Lin Siying, Vermeirsch Sandra, Pontikos Nikolas, Martin-Gutierrez Maria Pilar, Daich Varela Malena, Malka Samantha, Schiff Elena, Knight Hannah, Wright Genevieve, Jurkute Neringa, Simcoe Mark J, Yu-Wai-Man Patrick, Moosajee Mariya, Michaelides Michel, Mahroo Omar A, Webster Andrew R, Arno Gavin

Abstract excerpt

PURPOSE: Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in gene-directed therapies highlight the importance of understanding the genetic basis of these disorders. This study details the molecular spectrum in a large United Kingdom (UK) IRD patient cohort. DESIGN: Retrospective study of electronic patient records. PARTICIPANTS: Patients with IRD who attended the Genetics Service...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38219857
DOI: 10.1016/j.oret.2024.01.012
PMCID: PMC11932969

Genes

USH2A
ABCA4
BEST1
PRPH2
RPGR
BBS1
CNGB3
EFEMP1
RP1
TIMP3

Provenance

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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