STRUCTURE OF CONGENITAL AND HEREDITARY EYE DISEASES IN CHILDREN AND MEASURES OF ITS PREVENTION

Abstract

Hereditary and congenital eye disease compose 60% to 90% of all causes of disability due to reduced visual acuity in children. The treatment is ineffective and prevention methods requires significant improvement. The purpose of the study was to determine the structure of congenital and hereditary ophthalmopathology in children and suggest measures to improve its prevention. Boarding students from the schools for blind and visually impaired children, schools for students with neuropsychiatric disorders who had congenital or hereditary eye problems were examined in NCSH “Okhmatdyt”. Diagnosis of genetically determined pathology of the organ of vision was performed as a suspected hereditary diseases after receiving results of ophthalmological examination, portraiture method and family history. Children with suspected hereditary eye pathology were sent to verify the diagnosis at the medical genetic center of NCSH “Okhmatdyt.” The study has found that hereditary and congenital eye pathology significantly burdens the children’s population. Hereditary diseases of the students of boarding schools for blind and visually impaired included 55 nosological forms of mainly AD mode of inheritance ((40,00 ± 6,61)%). The most frequent were retinal and vascular tract pathology ((30,18 ± 3,53)%), optic nerve pathology (24,85 ± 3,32)%, the disorders of oculomotor system (13,61 ± 2,64)% and in (26,04 ± 3,38)% cases they were syndromal. In (79,29 ± 3,12)% cases these diseases manifested at birth, which determines the possible terms of early diagnosis and early rehabilitation. Among children with neuropsychiatric disorders refractive errors and pathology of oculomotor system were more frequent, those are manifestations of syndromic lesions. As a result, we have concluded that prevention of congenital and hereditary diseases do need some improvement, so we have identified the groups of risk, among which the prevention should be held first of all. The necessity of strengthening the health education among the population of reproductive age was proved. We recommend to improve alertness of doctors performing ultrasound screening of pregnant women, neonatal ophthalmologic screening to find the congenital and hereditary diseases should be performed, the clinical protocols of Ministry of Health of Ukraine about the early prevention of ophthalmic examinations should be reviewed, a register of congenital and hereditary ophthalmopathology should be created, and the medical genetic consultation should be performed if such diseases are suspected. It is possible to suspect genetically determined character of the eye pathology basing on the results of outpatient examination and collection of family history by ophthalmologist. We have proposed an algorithm of implementation of measures to prevent congenital and hereditary diseases of the organ of vision among children if an ophthalmologist suspects such a pathology.

Keywords

• heredity, blindness and decreased visual acuity, eye disability, prevention, children.