Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.

backgroundGenetic eye diseases (GED) are among the top ten leading causes of global blindness. Ophthalmic genetics has emerged as a dedicated subspecialty, integrating clinical and genetic diagnosis with genetic counseling.

methodsWe conducted an electronic and physical medical records search for the patients attending the clinics. Clinical data included patient demographics, presenting complaint, physical exam findings, best-corrected visual acuity (BCVA), available ophthalmic and diagnostic radiology imaging, and genetic testing results.

resultsElectronic medical records of 499 patients were examined; 472 patients were diagnosed with GED. The mean age was 22.7 years. Males represented 57.1% of the patients. The most common diagnosis was isolated retinitis pigmentosa (32.2%), followed by Stargardt disease (11.0%), early-onset severe retinal dystrophy (10.3%), cone dystrophy (7.1%), cone-rod dystrophy (4.7%), autosomal recessive bestrophinopathy (3.6%), and enhanced S-cone syndrome (3.1%). The mean BCVA was 6/48, where 42% exhibited moderate to severe visual impairment, and 24% were classified as blind. Genetic tests were done for 28.8% of the GED patients with a molecular solving rate of 87.5%. Positive cases encompassed 47 genes; the most common were ABCA4 (11.8%), CRB1 (10.1%), BEST1 (8.4%), and NR2E3 (5.9%). Systemic associations were reported by 12.7%. Within this group hearing loss was the most common association encountered (45%), followed by intellectual disability (16.7%), and polydactyly (15%).

conclusionThis study provides a comprehensive overview of the encountered GEDs spectrum. The data are valuable for refining clinical diagnoses, establishing accurate inheritance patterns, informing family planning, and assessing patient eligibility for emerging gene-targeted therapies.