Il'ina T G, Pisarevskiĭ S L
Oftalmol Zh. 1989(5):294-6.
At the present time about 2000 hereditary diseases are known, 246 pathologic genes leading to eye pathology are described. Diagnostics of these diseases is important for correct treatment, prognosis and rehabilitation. Results of examinations, conducted by the authors, of 1843 pupils of boarding-schools for blind and poor-sighted children in Uzbekistan were identified with 87 nosologic forms of hereditary eye diseases which can develop among the contingents of pupils of these schools. Hereditary diseases were diagnosed in 1005 (54%) examined children. The hereditary character of this pathology is confirmed by results of genealogical examination, combination of eye pathologies, associated diseases of internal organs and systems in the examined children.
目前已知约2000种遗传性疾病,已描述了246种导致眼部病变的病理基因。对这些疾病进行诊断对于正确治疗、预后和康复至关重要。作者对乌兹别克斯坦盲童和弱视儿童寄宿学校的1843名学生进行了检查,结果发现这些学校学生群体中可能出现87种遗传性眼病的病种。在1005名(54%)受检儿童中诊断出遗传性疾病。系谱检查结果、受检儿童眼部病变的组合、内脏器官和系统的相关疾病证实了这种病理的遗传性。