{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T18:35:22Z","timestamp":1782844522745,"version":"3.54.5"},"reference-count":39,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T00:00:00Z","timestamp":1767571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute of Health","award":["U01EY030580"],"award-info":[{"award-number":["U01EY030580"]}]},{"name":"National Institute of Health","award":["U01EY034590"],"award-info":[{"award-number":["U01EY034590"]}]},{"name":"National Institute of Health","award":["R24EY028758"],"award-info":[{"award-number":["R24EY028758"]}]},{"name":"National Institute of Health","award":["R24EY027285"],"award-info":[{"award-number":["R24EY027285"]}]},{"name":"National Institute of Health","award":["R01EY033770"],"award-info":[{"award-number":["R01EY033770"]}]},{"name":"National Institute of Health","award":["R01EY018213"],"award-info":[{"award-number":["R01EY018213"]}]},{"name":"National Institute of Health","award":["R01EY024698"],"award-info":[{"award-number":["R01EY024698"]}]},{"name":"Foundation Fighting Blindness","award":["TA-GT-0321-0802-COLU-TRAP"],"award-info":[{"award-number":["TA-GT-0321-0802-COLU-TRAP"]}]},{"name":"Lynette and Richard Jaffe Foundation"},{"name":"NYEE Foundation"},{"name":"Rosenbaum Family Foundation"},{"name":"Gebroe Family Foundation"},{"name":"Phanaphat Family Foundation"},{"name":"Research to Prevent Blindness (RPB) Physician-Scientist Award"},{"name":"RPB, New York, NY, USA"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Background: Retinitis 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. Objective: To analyze the clinical characteristics, demographic distribution, and genetic factors of RP patients in this cohort of 95 Turkish RP patients. Methods: This 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. Results: The mean patient age was 36.0 \u00b1 12.6 years (range: 13\u201371 years). Mean symptom onset age was 14.8 \u00b1 11.1 years (range: 0\u201352 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 (n = 21), 85.7% had severe vision loss (\u226410%), 4.8% had moderate vision loss (11\u201330%), and 9.5% had mild vision loss (&gt;30%). Genetic testing was performed in 54.3% of patients, with CERKL and USH2A being the most commonly identified genes. Conclusions: 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.<\/jats:p>","DOI":"10.3390\/medsci14010024","type":"journal-article","created":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T10:53:50Z","timestamp":1767610430000},"page":"24","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6738-1643","authenticated-orcid":false,"given":"Aykut","family":"Demirkol","sequence":"first","affiliation":[{"name":"Jonas Children\u2019s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA"},{"name":"Edward S. Harkness Eye Institute, Irving Medical Center, Columbia University, New York, NY 10032, USA"},{"name":"Edward S. Harkness Clinical Coordinating Center, Columbia University, New York, NY 10032, USA"},{"name":"Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2588-0863","authenticated-orcid":false,"given":"Fadime","family":"Kendir Uguz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Atat\u00fcrk State Hospital, 07040 Antalya, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuri Murat","family":"Cavus","sequence":"additional","affiliation":[{"name":"Medical School, Suleyman Demirel University, 32260 Isparta, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilay","family":"Demirkol","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[{"name":"Jonas Children\u2019s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA"},{"name":"Edward S. Harkness Eye Institute, Irving Medical Center, Columbia University, New York, NY 10032, USA"},{"name":"Edward S. Harkness Clinical Coordinating Center, Columbia University, New York, NY 10032, USA"},{"name":"Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032, USA"},{"name":"Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Irving Medical Center, Columbia University, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1993","DOI":"10.2147\/OPTH.S365486","article-title":"Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs","volume":"16","author":"Cross","year":"2022","journal-title":"Clin. 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