Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort

This cohort of 95 Turkish patients with RP shows predominant autosomal recessive inheritance patterns with high rates of consanguineous marriage and positive family history. The majority of patients present with severe vision loss, and symptoms of onset typically occur during childhood and adolescence. These findings highlight the importance of genetic counseling and early diagnosis strategies in populations with high consanguinity rates.

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Publication Details

Journal
Medical Sciences
Published
2026-01-05
DOI
https://doi.org/10.3390/medsci14010024
Primary Topic
Retinal Development and Disorders
Type
article
Field-Weighted Citation Impact
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article

Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort

Aykut Demirkol, Fadime Kendir Uguz, Stephen H. Tsang, Nuri Murat Cavus et al.
Medical Sciences
Retinal Development and Disorders
article

Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort

Aykut Demirkol, Fadime Kendir Uguz, Stephen H. Tsang, Nuri Murat Cavus, Ilay Demirkol
article en

Abstract

This cohort of 95 Turkish patients with RP shows predominant autosomal recessive inheritance patterns with high rates of consanguineous marriage and positive family history. The majority of patients present with severe vision loss, and symptoms of onset typically occur during childhood and adolescence. These findings highlight the importance of genetic counseling and early diagnosis strategies in populations with high consanguinity rates.

Medical SciencesVol. 14(1)
Süleyman Demirel Üniversitesi (TR), Columbia University Irving Medical Center (US), New York Stem Cell Foundation (US), State Hospital (GB), The Coordinating Center (US), Sivas State Hospital (TR), Antalya Eğitim ve Araştırma Hastanesi (TR), Antalya IVF (TR), Columbia University (US)
Gender equality
Openalex Percentile: Top 97%
Retinal Development and Disorders
DOIOpen Access PDFOpenAlex
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Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort — Aykut Demirkol, Fadime Kendir Uguz, et al. · Medical Sciences (2026) | TGRS Research Map | TGRS