FAMILIAL OPTIC ATROPHY WITH SEX-INFLUENCED SEVERITY - A NEW VARIETY OF AUTOSOMAL-DOMINANT OPTIC ATROPHY
FAMILIAL OPTIC ATROPHY WITH SEX-INFLUENCED SEVERITY - A NEW VARIETY OF AUTOSOMAL-DOMINANT OPTIC ATROPHY
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DOI：
10.1159/000309608
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发表时间：
1986-01-01
期刊：
影响因子：
2.6
通讯作者：
MOLLICA, F
中科院分区：
文献类型：
--
作者：
GORGONE, G;LIVOLTI, S;MOLLICA, F
本文报告一个连续三代有20名成员的视神经萎缩家系，无其他眼部或眼外表现。该异常是作为一个常染色体显性性状传递的。严重程度呈明显的双峰分布：4例男性患者主诉自童年起视力严重受损，而其他16例受试者（7例男性和9例女性）完全无症状。这个家族可能是一个新的常染色体显性视神经萎缩的例子，其特征是性别影响的严重程度。
A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other subjects (7 males and 9 females) were completely asymptomatic. This family could be an example of a new variety of autosomal dominant optic atrophy characterized by sex-influenced severity.