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

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

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Article in Molecular vision, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Zulal KelesDepartment of Medical Genetics, Dokuz Eylül University, Izmir, Turkey.

Ozlem Ural FatihogluDepartment of Ophthalmology, Dokuz Eylül University, Izmir, Turkey.

Ziya AyhanDepartment of Ophthalmology, Dokuz Eylül University, Izmir, Turkey.

Ali O SaatciDepartment of Ophthalmology, Dokuz Eylül University, Izmir, Turkey.

Ahmet O CaglayanDepartment of Medical Genetics, Dokuz Eylül University, Izmir, Turkey.

Ayfer UlgenalpDepartment of Medical Genetics, Dokuz Eylül University, Izmir, Turkey.

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6 · The paper itself

Abstract

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. Methods: WES was performed on 34 unrelated probands diagnosed with diverse IRD subtypes. Variant analysis focused on identifying clinically relevant variants consistent with the patients' phenotypes and inheritance patterns, emphasizing novel and rare variants. Results: Clinically relevant variants consistent with the patients' phenotypes and inheritance patterns were identified in 24 cases. Among these, four variants were novel: Conclusions: This study underscores the diagnostic power of WES in IRDs, revealing novel variants and supporting its integration into clinical practice to enhance early diagnosis and enable precision medicine.

Indexed as

Exome SequencingEye ProteinsMutationRetinal DystrophiesAdolescentAdultChildChild, Preschoolcis-trans-IsomerasesCohort StudiesExomeFemaleHomozygoteHumansMalePedigreecis-trans-IsomerasesEye Proteins

Identifiers

PMID41867366

PMCPMC13002549

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