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

This study investigated features of ocular diseases in children born from consanguineous marriages.

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.

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.

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.