ArticleMedical sciences (Basel, Switzerland)2026
Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.
Article in Medical sciences (Basel, Switzerland), 2026. 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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Abstract
backgroundRetinitis Pigmentosa (RP) is a group of inherited retinal dystrophies with significant genetic heterogeneity. The prevalence and clinical characteristics may vary among different populations due to genetic and cultural factors.
objectiveTo analyze the clinical characteristics, demographic distribution, and genetic factors of RP patients in this cohort of 95 Turkish RP patients.
methodsThis retrospective study analyzed data from 95 RP patients collected through structured questionnaires and clinical records. Data included age of symptom onset, family history, consanguineous marriage history, visual acuity, and genetic test results.
resultsThe mean patient age was 36.0 ± 12.6 years (range: 13-71 years). Mean symptom onset age was 14.8 ± 11.1 years (range: 0-52 years). Positive family history was present in 53.1% (43/81) of evaluable patients. Consanguineous marriage history was found in 52.4% (43/82) of cases. Among patients with visual acuity data (
conclusionsThis 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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