Characteristics and features of ocular diseases in children born from consanguineous marriages

PURPOSE: This study investigated features of ocular diseases in children born from consanguineous marriages. MATERIAL AND METHODS: The study analyzed outpatient records of 560 patients under 15 years of age with vision-threatening ocular pathology leading to disability, who presented to the National Ophthalmology Center in 2019-2023. Every second child was selected by random sampling from a cohort of 1120 patients with congenital cataract, glaucoma, retinal dystrophies, optic nerve pathology, and developmental eye anomalies. Two groups were formed: group 1 - children born from consanguineous marriages (409 subjects), group 2 - children of non-related parents (151 subjects). Light perception, visual acuity, binocular vision, and visual fields were assessed. Effectiveness of treatment (conservative and surgical) was evaluated according to improvement in visual function: outcomes were considered satisfactory in the presence of positive changes and unsatisfactory in their absence. RESULTS: In group 1, bilateral lesions in girls were detected 28.4 times more often, and in boys 65.7 times more often, than unilateral involvement. In group 2, these differences were less pronounced: 1.2 times in girls and 2.3 times in boys. Satisfactory treatment outcomes in group 1 were observed in 13 (8.8%) girls and 24 (9.2%) boys, whereas in group 2, treatment success was more than three times higher - 20 (32.8%) girls and 29 (32.2%) boys. Overall, treatment effectiveness in children born from consanguineous marriages was significantly lower compared with that in the control group. CONCLUSION: Children born from consanguineous marriages demonstrate a high prevalence of congenital and hereditary ocular diseases, predominantly of dystrophic and developmental origin. These disorders tend to have a more severe course and are characterized by lower treatment efficacy. The findings underscore the importance of genetic counseling and early ophthalmological screening to prevent severe visual impairment.