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

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 ± 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 (n = 21), 85.7% had severe vision loss (≤10%), 4.8% had moderate vision loss (11-30%), and 9.5% had mild vision loss (>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.