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Mostafa Feghhi , Mohammad Ali Moghimi , Ali Kasiri , Fereydoun Farrahi

Abstract

Inherited retinal disorders (IRDs) are a broad range of diseases characterized by progressive visual loss due to improper development, dysfunction, or premature death of the retinal photoreceptors. In this cross-sectional study, we tried to determine the epidemiology of IRDs in Khuzestan province, southwest of Iran. In a population-based, cross-sectional study conducted from March 2018 to February 2021 in Khuzestan province. The sample size was 136 patients with a definitive diagnosis of Inherited retinal disorders. Detailed medical history was taken, visual acuity was determined and extensive eye examinations were performed. The distribution of different causes of IRD in patients was determined. From March 2018 to February 2021, 136 patients with a definite diagnosis of IRD were identified in Khuzestan province. 62 patients (45.6%) were female and 74 patients (54.4%) were male. The highest number of patients were in the age group over 15 years. The most common IRDs in Khuzestan province were retinitis pigmentosa (RP) so that 126 patients (92.6%) had RP. Parents of 113 patients (83.1%) had consanguineous marriage and were related, but only 16.9% of patients’ parents were not relatives. There was a statistically significant relationship between patients’ parents’ consanguineous marriage and RP (P-value < 0/05). Concerning the high prevalence of consanguineous marriage in parents of IRDs patients in Khuzestan Province and the high prevalence of consanguineous marriage in Khuzestan Province, health policymakers should consider training and genetic counseling for families and perform the required pre-marital screening, especially if consanguineous marriages are ongoing‎.

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