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Article

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

BMC medical genomics - 28 Aug 2025

Demas Nicholas, Estrada Cesar, Morales Paula, Jacobs Mitchell, Kitchens John, Pearson Andrew, Maldonado Ramiro

Abstract excerpt

BACKGROUND: Inherited retinal diseases (IRDs) are a group of heterogeneous conditions leading to visual impairment and blindness with over 280 associated genes identified so far. This study aims to provide an initial characterization of the clinical and genetic landscape of IRDs in the United States with a cohort from Kentucky and contribute to the existing knowledge from studies in other regions. METHODS: This...

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Identifiers

PMID: 40877827
DOI: 10.1186/s12920-025-02186-5
PMCID: PMC12392666

Genes

USH2A
ABCA4
RHO
ADGRV1
ARSG
PCDH15
WFS1

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