Szałanda-Hora L
Neurol Neurochir Pol. 1979 Jan-Feb;13(1):107-10.
Kjer's disease is a benign form of hereditary optic nerve atrophy observed mainly in women. It starts in childhood and progresses slowly without leading to complete blindness. The inheritance is dominant. These features differentiate it from other known forms of hereditary optic nerve atrophy, that is Leber's and Behr's syndromes. The reported case was observed in a 21-year-old man whose mother, grandmother and great-grandmother had optic nerve atrophy. Since the age of 10 years the patient had visual acuity impairment progressing slowly. Examination demonstrated central scotoma, pallor of both optic discs particularly on the temporal side. After 10 years of the disease the visual acuity was 0.5 on the right and 0.3 on the left side. There was bilateral hearing impairment of high tones. The patient had no knee and ankle jerks. Differential diagnosis of Kjer's syndrome against other hereditary-degenerative diseases is discussed.
凯尔氏病是一种主要见于女性的良性遗传性视神经萎缩。它始于儿童期,进展缓慢,不会导致完全失明。其遗传方式为显性遗传。这些特征使其有别于其他已知的遗传性视神经萎缩形式,即莱伯氏综合征和贝赫氏综合征。报告的病例是一名21岁男性,其母亲、祖母和曾祖母均患有视神经萎缩。自10岁起,患者视力逐渐下降且进展缓慢。检查显示有中心暗点,双侧视盘苍白,尤其是颞侧。患病10年后,右眼视力为0.5,左眼视力为0.3。存在双侧高音调听力障碍。患者膝跳反射和跟腱反射消失。文中讨论了凯尔氏综合征与其他遗传性退行性疾病的鉴别诊断。