Joseph’s病是以小脑共济失调、锥体束征、肌张力异常、强直等锥体外系综合征、四肢肌萎缩和感觉障碍、眼肌麻痹和眼颤等为特征的常染色体显性遗传性疾病。该症眼运动障碍颇具特点,作者分析了日本1个Joseph’s病家系12例现症者眼动异常的表现,12例均有上视麻痹、水平注视眼震、会聚障碍,多数有快速扫掠障碍、追随眼动作障碍(purs-uit eye movement)、眼睑睁开困难,少数表现突眼、视动障碍、温反应减退、方波形急跳(square wavejerk)等,12例瞳孔形状和光反应均正常。OPCA可有类似于Joseph’s病的眼症表现,作者将其与27例0PCA作了比较,发现会聚不能,水平眼震、垂直性注视受限、温反应眼颤视觉抑制缺乏,OPCA出现率极低,两者有统计学意义,而眼睑睁开困难、突眼和眼球不自主运动为Joseph’s病所特有。因此限动各亚成分的分析,对Joseph’s病与OPCA的鉴别是有益的。作者还报告了该家族1例Joseph’s病的尸检结 Joseph’s disease is an autosomal dominant disorder characterized by cerebellar ataxia, pyramidal tract signs, dystonia, rigidity and other extrapyramidal syndromes, limb atrophy and sensory disturbances, ophthalmoplegia and nystagmus . The dyskinesia is quite characteristic of the disease, the author analyzed a Japanese Joseph’s family of 12 cases of ocular anomalies, 12 cases were paralyzed, the level of attention to nystagmus, convergence disorders, most of the fast sweep disorders , Followed by purs-uit eye movement, difficulty in opening the eyelids, a small number of exophthalmos, visual disturbances, diminished temperature response, square wave jerk, etc. The pupil shape and photoreaction were all normal in 12 patients. OPCA may have similar to Joseph’s disease ocular manifestations, the authors compared with 27 cases of 0PCA and found that convergence can not, the level of nystagmus, vertical fixation is limited, the lack of visual response to temperature response to nystagmus, OPCA was extremely low , Both of which were statistically significant, whereas eyelid opening difficulties, exophthalmos and involuntary eye movements were unique to Joseph’s disease. Therefore, the analysis of limited sub-components of Joseph’s disease and the identification of OPCA is beneficial. The authors also reported one autopsy of Joseph’s disease in this family