Hajji Z, Halhal M, Chaoui Z, Chefchaouni M, Agnaou L, Berraho A
Clinique Universitaire Ophtalmologique B, CHU Ibn Sina, Rabat, Maroc.
J Fr Ophtalmol. 1998 Dec;21(10):734-40.
Wolfram syndrome is a rare disorder defined by the occurrence of diabete mellitus, diabete insipidus, optic atrophy and deafness; DIDMOAD is a commonly accepted acronym. We report 3 further cases: two girls and one boy. Their age ranged from 12 to 17 years. The diagnosis was based on the presence of juvenile diabete mellitus, bilateral optic atrophy, urologic signs, with urinary tract dilation; and deafness in two cases. The ophthalmic signs of Wolfram syndrome are progressive decrease in visual acuity, constriction of the peripheral visual field with or without central scotoma, color vision disturbances and bilateral optic disc atrophy. Diabetic retinopathy is a rare complication. The other clinical features are discussed so as to differentiate between Wolfram syndrome and other optic atrophies associated with diabete mellitus. We discuss of the pathogenic hypothesis including the mitochondrial dysfunction.
沃夫勒姆综合征是一种罕见的疾病，其特征为患有糖尿病、尿崩症、视神经萎缩和耳聋；DIDMOAD是普遍认可的首字母缩略词。我们报告另外3例病例：两名女孩和一名男孩。他们的年龄在12至17岁之间。诊断依据为存在青少年糖尿病、双侧视神经萎缩、泌尿系统体征伴尿路扩张；以及两例耳聋。沃夫勒姆综合征的眼科体征包括视力逐渐下降、周边视野缩小（伴有或不伴有中心暗点）、色觉障碍和双侧视盘萎缩。糖尿病性视网膜病变是一种罕见的并发症。文中还讨论了其他临床特征，以便区分沃夫勒姆综合征与其他与糖尿病相关的视神经萎缩。我们讨论了包括线粒体功能障碍在内的致病假说。
