Topical issues in pediatric ophthalmogenetics: diversity and prevalence of hereditary eye pathology

Abstract

According to the World Health Organization, hereditary eye pathologies (HEP) constitute a significant proportion of ophthalmologic diseases (at least 35% in total and up to 40%in children), resulting in substantial disability (65-70%). However, there is a lack of data on the prevalence and diversity of HEP in the Russian Federation. Therefore, it is crucial to study the prevalence and etiological nature of these diseases using modern genome technologies, in order to identify frequent forms, enable early detection in children, and develop effective therapeutic and preventive measures. Objective: The objective of this study was to estimate the prevalence of HEP in children, both as isolated conditions and as part of hereditary diseases and syndromes, in seven regions of the Russian Federation, while identifying frequently occurring nosological forms. Materials and methods: An epidemiological and clinical genetic study was conducted in 60 districts across the regions of Rostov, Kirov, Republics of Chuvashia, Udmurtia, Bashkortostan, Tatarstan, and Karachay-Cherkessia, encompassing a total population of 2,434,460 individuals, including 480,575 children. The study encompassed the entire population of the selected areas, regardless of age, and followed an original protocol for genetic and epidemiological research established at the Laboratory of Genetic Epidemiology. The methods employed included clinical-genetic, genealogical, clinical-laboratory, and molecular-genetic techniques, such as full-exome sequencing. The prevalence of visual organ diseases was calculated. Results: The results revealed a total of 449 patients with 56 different forms of isolated hereditary eye pathology (IHEP), indicating a prevalence of 1:1070 children. Additionally, 507 pediatric patients were identified with eye involvement as a symptom of 50 hereditary diseases and syndromes (SHEP), resulting in a prevalence of 1:954 children. Overall, hereditary eye lesions affecting various eye structures were identified in 956 pediatric patients, yielding a prevalence of 1:504 children. Frequent nosological forms were identified for both disease groups: 17 in IHEP and 14 in SHEP. Notably, these frequent hereditary eye diseases accounted for more than 80% of all identified patients with hereditary pathology (83.30% and 88.10% for IHEP and SHEP, respectively). Conclusion: This study provides new insights into the epidemiology of hereditary eye pathologies in the Russian Federation and describes frequent diseases within this population. These findings will contribute to improving research and clinical practices, expanding the range of treatable conditions, and informing targeted programs and measures in the field of children’s healthcare.