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Article

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.

Clinical genetics - 1 Jul 2025

Yavas Cuneyd, Arvas Yunus Emre, Dogan Mustafa, Gezdirici Alper, Aslan Elif Sibel, Karapapak Murat, Barıs Savas, Eroz Recep

Abstract excerpt

Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families....

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Identifiers

PMID: 39865314
DOI: 10.1111/cge.14708
PMCID: PMC12136866

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