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Lebe’rs视神经萎缩,又称为家族遗传性视神经萎缩。1871年Leber首次描述,将本病作为一个独立的临床疾病以来,国外在1931年前已报告1182例,国内自1953年由刘永均等首先报告二家系6例,以后陆续有报告。本文报告在本院发现的二个家系四例如下:病例例1,王××(先证者),男,50岁,因双眼视力逐渐模糊20年来院首诊,配偶33岁,健康,生二男一女。眼部检查,双眼远视力均为0.3,近视力均为0.3/30cm。屈光度:右眼为正视,左跟为+5.0DS,视力不能矫正,双外眼(-),屈光介质未见异常。双眼眼底:视盘颜色苍白,边界清楚,筛孔可见,黄斑中心凹反光清晰,血管、网膜无异常。限位正,全身情况:发育正常,心肺(-),全身无异常发现。家族史,近几代无近亲联姻,父母均亡故。临床诊断:Lebr’s视神经萎缩。
Lebe’rs optic atrophy, also known as familial hereditary optic atrophy. Leber first described in 1871, the disease as an independent clinical disease since 1931, foreign countries have reported 1,182 cases, since 1953 by Liu Yongjun and other domestic first reported two families of 6 cases, one after another have been reported. This article reports four cases of two families found in our hospital as follows: Case 1, Wang × × (proband), male, 50 years old, blurred vision due to binocular vision 20 years since the first hospital, spouse 33 years old, health, health Two men and one woman. Eye examination, binocular distance vision were 0.3, near vision was 0.3 / 30cm. Diopter: right eye for the front, the left with +5.0 DS, visual acuity can not be corrected, double outer eye (-), refractive media no abnormalities. Eyes binocular: Disc color pale, clear boundary, visible mesh, macular foveal reflex clear, vascular, omental no abnormalities. Limit positive, general condition: normal development, cardiopulmonary (-), no abnormal body found. Family history, marriage in recent generations without marriage, parents are deceased. Clinical diagnosis: Lebr’s optic atrophy.