171 -2 (30/4) 2020 — Usmanova D.D., Nasimova S.O., — ANALYSIS OF OPHTHALMIC DISEASES AT SOME HEREDITARY DISEASES OF THE NERVOUS SYSTEM

ANALYSIS OF OPHTHALMIC DISEASES AT SOME HEREDITARY DISEASES OF THE NERVOUS SYSTEM

Usmanova D.D., -Tashkent Pediatric Medical Institute. 223, Bagishamal Street, Tashkent, 100140. http://tashpmi.uz.

Nasimova S.O., -Tashkent Pediatric Medical Institute. 223, Bagishamal Street, Tashkent, 100140. http://tashpmi.uz.

Resume,

Relevance. The basis for the prevention of hereditary pathology is medical genetic consultation. The effectiveness of consultation largely depends on the level of knowledge about the prevalence, spectrum, features of phenotypic manifestations of individual nosological forms of heritable diseases of the nervous system, as well as information on the spectrum of pathological mutations in the genes responsible for the occurrence of common diseases in a particular region. Objective: to identify ophthalmic disorders in some heritable diseases of the nervous system. Material and research methods. From 2018 to 2020. In the Republican screening center for mother and child, 30 patients with ophthalmic disorders of some inherited diseases of the nervous system were examined. Patients underwent clinical and neurological examination, genealogical mapping, biochemical and specific laboratory tests, and an ophthalmologist’s consultation. The results of the study. It was revealed: 9 cases of an ataxia of Friedreich, with the identification of the affected organ of vision: nystagmus, partial atrophy of the optic nerve, visual field defects. In 9 examined patients, the diagnosis was established – tuberous sclerosis, which was accompanied by damage to the organ of vision in the form of hematoma. In 3 patients, Crabbe disease was revealed, in which of ophthalmic disorders, atrophy of the optic disc and blindness were revealed. In 6 patients, the diagnosis was established – spastic paraplegia of Shtrumpel, in whom there were revealed: nystagmus, atrophy of the optic nerves and strabismus. In 3 patients with hepatolenticular degeneration or Wilson-Konovalov disease, upon inspection a slit lamp revealed typical changes in the eyes in the form of a Kaiser- Fleischer corneal ring. Conclusion. Prenatal diagnosis of heritable diseases due to the urgency of the problem, this area of genetic diagnosis deserves special attention. Future parents can learn about the likelihood of having a baby with a particular pathology. The presence of this information helps to make the right decision, start treatment on time, adjust the lifestyle, and prevent from the development of genetic diseases.

Key words: Heritable diseases of the nervous system; Ophthalmic disorders; Ataxia of Friedreich; Tuberous sclerosis; Crabbe disease; Spastic paraplegia of Shtrumpel; Hepatolenticular degeneration.

First page

643

Last page

645

For citation: Usmanova D.D., Nasimova S.O., Analysis of ophthalmic diseases at some hereditary diseases of the nervous system//New Day in Medicine 2(30)2020 643-645 https://cutt.ly/xvDopx4

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