Osei K, Weber P A, Falko J M
Ann Ophthalmol. 1986 May;18(5):196-8.
The association of diabetes mellitus, optic nerve atrophy, and sensorineural deafness is a rare but distinct syndrome. We describe an 18-year-old woman who developed diabetes mellitus at three years of age, sensorineural deafness at 14 years of age, and bilateral asymptomatic optic atrophy at 18 years of age. Diabetic retinopathy was notably absent. Forty-two patients with diabetes mellitus and optic atrophy have been described. All had type I diabetes mellitus without typical diabetic retinopathy even though insulin-dependent diabetes mellitus was present for many years. Other neurologic abnormalities, including diabetes insipidus, epilepsy, and nystagmus, have been described in association with diabetes mellitus and optic atrophy. A distinct, heredofamilial genetic mechanism, unrelated to diabetes mellitus per se, is postulated.
糖尿病、视神经萎缩和感音神经性耳聋的关联是一种罕见但独特的综合征。我们描述了一名18岁女性，她3岁时患糖尿病，14岁时患感音神经性耳聋，18岁时出现双侧无症状性视神经萎缩。明显没有糖尿病视网膜病变。已有42例糖尿病合并视神经萎缩的患者被描述。所有患者均为I型糖尿病，即使多年来一直患有胰岛素依赖型糖尿病，也没有典型的糖尿病视网膜病变。其他神经学异常，包括尿崩症、癫痫和眼球震颤，也已被描述与糖尿病和视神经萎缩有关。推测存在一种与糖尿病本身无关的独特的遗传家族性遗传机制。
