76 -7 (69) 2024 - Bilolov E.N., Narzikulova K.I. - INFLUENCE OF GENETIC CHARACTERISTICS OF CERTAIN TYPES OF HEREDITARY OPHTHALMOPATHOLOGY ON CLINICAL SYMPTOM
INFLUENCE OF GENETIC CHARACTERISTICS OF CERTAIN TYPES OF HEREDITARY OPHTHALMOPATHOLOGY ON CLINICAL SYMPTOM
Bilolov E.N. - Tashkent Medical Academy
Narzikulova K.I. - Tashkent Medical Academy
Ochildiyev M.B. - Termez branch of the Tashkent Medical Academy
Resume
Currently, there are many works dedicated to studying the genogeography of eye diseases in different countries of the world. according to the world health organization, there are more than 45 million blind people in the world, 1.5 million of whom are children. the prevalence of blindness depends on the economic situation in the region - in developing countries, this trend is higher.A number of who analysts point to the tendency of the share of hereditary ophthalmopathology [11] in the total composition of eye diseases in developed countries to increase, which is 45% in western europe and only 20% in developing countries. The purpose of this study is to study the clinical and genetic characteristics of patients with hereditary ophthalmopathology in Surkhandarya region.According to the results of the examination, the patients, who were taken as research material, were examined from the sixth month of birth to 38 years old. Men - 53%, women - 47%. The largest percentage was made up of patients under the age of 21 (27%). The most common hereditary ophthalmopathologies were diseases of the retina and choroid (18.5%), congenital cataract (15.5%), as well as high myopia (12%). Among the eye diseases included in the syndromes, marfan syndrome (3.8%) and achenfeld-rigger syndrome (2.9%) were identified with a high frequency. Based on the geneological analysis, the autosomal dominant inheritance of gene mutations in the proband with the symptoms of the disease is expressed exclusively in the next F1 generation, increasing the expressiveness of the disease symptoms, which leads to the rapid manifestation of clinical symptoms in the early stages of the disease.
Key words: hereditary ophthalmopathology, autosomal dominant, autosomal recessive, retinal abiotrophy.
First page
436
Last page
440
For citation:Bilolov E.N., Narzikulova K.I., Ochildiyev M.B. - INFLUENCE OF GENETIC CHARACTERISTICS OF CERTAIN TYPES OF HEREDITARY OPHTHALMOPATHOLOGY ON CLINICAL SYMPTOM//New Day in Medicine 7(69)2024 436-440 https://newdayworldmedicine.com/en/new_day_medicine/7-69-2024
List of References
- Гудзенко С.В., Федотов В.П., Евграфов О.В., Поляков А.В. Картирование и поиск гена, ответственного за развитие Х-сцепленного моторного нистагма. //Материалы научно-практической конференции «Вопросы офтальмогенетики». Москва. 2005; 49-54c.
- Гинтер Е.К. Генетика в офтальмологии. //Медицинская генетика. Москва. 2006;7:3-26.
- Козлова С.И. Наследственные синдромы и медикогенетическое консультирование в офтальмологии. //Материалы научно-практической конференции «Вопросы офтальмогенетики». Москва. 2005; 90-92c.
- Либман Е.С., Шахова Е.В. Состояние и динамика слепоты и инвалидности вследствие патологии органа зрения в России //Тез. докладов, часть 2 УП Съезда офтальмологов России, М. 2000; 209 c.
- Нероев В.В., Голубцова И.М. Клинико-генетические исследования и отдаленные результаты лечения наследственных тапеторетинальных дегенераций. //Материалы научно-практической конференции «Вопросы офтальмогенетики». Москва. 2005; 98-100c.
- Нероев В.В., Хватова A.B. Основные направления «Российской целевой программы по ликвидации устранимой детской слепоты». //Материалы II Российского межрегионального симпозиума «Ликвидация устранимой слепоты: всемирная инициатива ВОЗ. Ликвидация детской слепоты». Москва. 2004; 39-50c.
- Хватова А.В, Мухай М.Б. Основные принципы медико-генетического консультирования населения с наследственной офтальмопатологией в Тверской области / Офтальмология 2007;4(4):55-62.
- Bilalov E.N., Narziqulova K.I., Ochildiyev M.B., Nazirova S.H.,Surxondaryo viloyatida irsiy ko’z kasalliklarining ayrim turlarining tarqalishi //Journal of Аdvanced ophtalmology 2023; P 36-40.
- Na H.J., Kim K.H., KimS. Han P., KimH.J, Hann H.S. Ahn. Prevalence, age at diagnosis, mortality and cause of death in retinitis pigmentosa in Korea - a nationwide population-based study //Am. J. Ophthalmol. 2017;176:157-165.
- Nangia V., Jonas J.B, Khare A., Sinha A. Prevalence of retinitis pigmentosa in India: the Central India eye and medical study // ActaOphthalmol. 2012;90:649-650.
- Resnikov Serge. Слепота и слабовидение в мире по данным 2004 г., в частности, ситуация с детской слепотой. //Материалы П Российского межрегионального симпозиума «Ликвидация устранимой слепоты: всемирная инициатива ВОЗ. Ликвидация детской слепоты». Москва. 2004; 17-27c.
file
download