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1871年Leber首先描述了遗传性视神经萎缩的眼底改变。该病是导致青少年视功能严重损害的一种遗传性眼病,并不十分罕见,近年来国内亦有报道。本文报道5个家系共7例病人的临床分析,并通过眼底照像、血管萤光造影,以及微量元素锌、铜的生化分析测定等对本病的发病机理,诊断,遗传咨询以及防治等问题作一初步的探讨。临床资料分析共5个家系7例病人(见表)。发病年龄
Leber first described the fundus changes of hereditary optic atrophy in 1871. The disease is a genetic eye disease that causes severe impairment of visual function in adolescents. It is not uncommon and has been reported in China in recent years. This article reports the clinical analysis of 7 pediatric patients in 5 pedigrees. The pathogenesis, diagnosis, genetic counseling, prevention and treatment of the disease were examined by fundus photography, fluorescein angiography, and biochemical analysis of trace elements zinc and copper For a preliminary discussion. Clinical data analysis of a total of 5 family of 7 patients (see table). Age of onset