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Article

Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.

Molecular vision - 1 Jan 2025

Keles Zulal, Fatihoglu Ozlem Ural, Ayhan Ziya, Saatci Ali O, Caglayan Ahmet O, Ulgenalp Ayfer

Abstract excerpt

Purpose: Inherited retinal dystrophies (IRDs) encompass a genetically and clinically heterogeneous group of disorders, with over 300 genes currently implicated. Early and precise genetic diagnosis is critical for advancing targeted gene therapies and personalized treatment strategies. This study aims to investigate genetic findings in IRDs using whole-exome sequencing (WES) in a cohort of affected individuals....

Topics

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cis-trans-Isomerases
Cohort Studies
Exome
Exome Sequencing
Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 41867366
PMCID: PMC13002549

Genes

ARSG
CYP4V2
IFT81
RP2
RPE65
RPGR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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