Treft R L, Sanborn G E, Carey J, Swartz M, Crisp D, Wester D C, Creel D
Ophthalmology. 1984 Aug;91(8):908-15. doi: 10.1016/s0161-6420(84)34214-2.
Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.
一个96人大家庭中的23名成员表现出一种此前未被描述过的常染色体显性疾病。这种疾病包括进行性视神经萎缩、视网膜电图异常但无视网膜色素改变，以及通常在生命的第一个或第二个十年就明显出现的进行性感觉神经性听力丧失。在中年时，会出现上睑下垂、眼肌麻痹、共济失调和一种非特异性肌病。
