Delineation of the molecular spectrum of ocular genetic disorders in the United Arab Emirates

Ocular disorders represent a significant public health concern with diverse manifestations that can lead to visual impairment and blindness. Understanding the genetic basis of ocular disorders in specific populations is essential for targeted therapeutic and preventive strategies. Studies on the epidemiology or mutation spectrum of eye disorders in the United Arab Emirates (UAE) are limited. To delineate the molecular spectrum of ocular disorders in the UAE, a retrospective chart review of patients with ocular disorders evaluated between January 2010 and January 2023 at Tawam Hospital, Al Ain was performed. Genetic testing was performed based on the patient's clinical phenotypes and family history. A total of 232 patients with eye disorders were evaluated, 119 (51%) females and 113 (48.7%) males. Consanguinity was documented in 184 patients (79%). A total of 186 variants were identified, causing syndromic (114; 61%) and non-syndromic (72; 39%) eye manifestations in our cohort. Interestingly, 65 variants were novel, suggesting uniqueness among the population studied. Such an extensive retrospective study that investigates the genetic etiologies of eye diseases provides valuable insights that will form the basis for selecting candidate genes for population-wide screening and targeted therapy priorities for the UAE population.