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Article

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Investigative ophthalmology & visual science - 3 Jul 2023

Stephenson Kirk A J, Whelan Laura, Zhu Julia, Dockery Adrian, Wynne Niamh C, Cairns Rebecca M, Kirk Claire, Turner Jacqueline, Duignan Emma S, O'Byrne James J, Silvestri Giuliana, Kenna Paul F, Farrar G Jane, Keegan David J

Abstract excerpt

Purpose: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular abnormalities. Thorough phenotyping may facilitate genetic diagnosis and intervention. Here we report the clinical/genetic features of an Irish USH...

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Identifiers

PMID: 37466950
DOI: 10.1167/iovs.64.10.23
PMCID: PMC10362925

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