Department of Ophthalmology and Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Department of Ophthalmology and Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; Department of Medicine, Division of Neurology, University of Toronto, Ontario, Canada.
J Neurol Sci. 2022 Jun 15;437:120267. doi: 10.1016/j.jns.2022.120267. Epub 2022 Apr 20.
Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS as well as its pathophysiology, diagnostic approach, and treatment options. We then describe a case series of 5 patients (ages 15-38, 60% male) with WS. All had significant progressive visual loss. 3/5 patients had type 1 DM and 4/5 had hearing loss. Other neuro-ophthalmological findings included convergence impairment and end-gaze nystagmus. This case series highlights the variability in clinical presentations of patients with WS, reminding clinicians to maintain high suspicion for this diagnosis in order to allow for prompt diagnosis and genetic counselling for patients and their families.
沃尔夫拉赫姆综合征（WS）是一种罕见的进行性遗传性神经退行性疾病，其特征性表现为糖尿病、视神经萎缩和听力损失。其其他临床表现可能包括尿崩症、泌尿系统、神经和精神异常。我们回顾了 WS 的全身和眼部表现及其病理生理学、诊断方法和治疗选择。然后，我们描述了 5 例 WS 患者（年龄 15-38 岁，60%为男性）的病例系列。所有患者均有明显的进行性视力丧失。3/5 例患者患有 1 型糖尿病，4/5 例患者有听力损失。其他神经眼科发现包括会聚功能障碍和终末凝视性眼球震颤。本病例系列强调了 WS 患者临床表现的多样性，提醒临床医生保持对此诊断的高度怀疑，以便为患者及其家属提供及时诊断和遗传咨询。
