Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

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dc.authorid0000-0001-9226-6444
dc.contributor.authorDemir, Senol
dc.contributor.authorAtes, Esra Arslan
dc.contributor.authorSevik, Orkun
dc.contributor.authorSozer, Bengisu
dc.contributor.authorKose, Tugba
dc.contributor.authorSahin, Ozlem
dc.contributor.authorGeckinli, Bilgen Bilge
dc.date.accessioned2026-04-04T18:55:52Z
dc.date.available2026-04-04T18:55:52Z
dc.date.issued2025
dc.departmentİstanbul Bilgi Üniversitesi
dc.description.abstractInherited retinal dystrophies (IRDs) are genetic disorders characterized by retinal pigment epithelium or photoreceptor degeneration. Advances in molecular diagnostic technologies, particularly next-generation sequencing (NGS), have facilitated the identification of disease-causing variants; however, population-specific genetic data, especially for Turkish cohorts, remain limited. This study aims to investigate the genetic profile of IRD patients in a Turkish cohort and assess the diagnostic utility of NGS-based gene panel testing. A total of 94 patients diagnosed with IRDs were included in the study. Genomic DNA was extracted from the peripheral blood of patients who met the inclusion and exclusion criteria. NGS was performed to analyze 141 genes associated with IRDs, following current clinical guidelines and utilizing up-to-date variant databases. Among the 94 patients, 97 variants were identified in 70 patients (74%). Of these, 58 variants (59.79%) were classified as pathogenic and 39 variants (40.21%) as likely pathogenic. Additionally, 28 variants (28%) were novel and have not been previously reported in the literature. Our findings demonstrate that NGS is a powerful tool for the molecular diagnosis of IRDs and emphasizes the genetic diversity of IRDs in the Turkish population. The identification of novel variants also highlights the need for continued variant curation and population-specific studies to enhance diagnostic accuracy and genetic counseling.
dc.identifier.doi10.1111/cge.14769
dc.identifier.doi10.1111/cge.14769
dc.identifier.endpage552
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue5
dc.identifier.pmid40371729
dc.identifier.scopus2-s2.0-105005100770
dc.identifier.scopusqualityQ2
dc.identifier.startpage532
dc.identifier.urihttps://doi.org/10.1111/cge.14769
dc.identifier.urihttps://hdl.handle.net/11411/10597
dc.identifier.volume108
dc.identifier.wosWOS:001488200600001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20260402
dc.snmzKA_Scopus_20260402
dc.subjectInherited Retinal Dystrophies
dc.subjectIrds
dc.subjectNext-Generation Sequencing
dc.subjectRetinitis Pigmentosa
dc.titleDecoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
dc.typeArticle

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