Wolfram综合征的眼部表现  

Research progress of Wolfram syndrome associated ophthalmic manifestations

作　　者：杜倩 Du Qian(Tianjin Children's Hospital,Tianjin,300000 China)

机构地区：[1]天津市儿童医院眼科,300000

出　　处：《中国斜视与小儿眼科杂志》2023年第3期44-46,共3页Chinese Journal of Strabismus & Pediatric Ophthalmology

摘　　要：Wolfram综合征是一种罕见的常染色体隐性神经退行性疾病,主要由WFS1基因的纯合或复合杂合突变引起,因而又称WFS综合征。大多数患者眼部表现为视神经萎缩,少部分患者伴有视神经病变、视网膜病变、白内障、角膜病变、黄斑病变、眼球震颤等。基因检测及临床表现对WFS的诊断至关重要。目前缺乏有效的治疗手段,但早期干预、对症治疗对疾病的延缓有重要意义。Wolfram syndrome(Wolfram syndrome,WS)is a rare autosomal recessive neurodegenerative disorder,which is caused by homozygous or compound heterozygous mutation of WFS1 gene,and it is also known called WFS syndrome.Optic atrophy occurs eventually in the majority of the patients with WFS.Ocular symptoms of a few patients include optic neuropathy,retinopathy,cataract,keratopathy,macular disease,nystagmus.Genetic testing combined with clinical manifestations is of great importance for the diagnosis of WFS.Currently,there is a lack of effective treatment.However,early intervention and symptomatic treatment are essential to delay the diseases.

关 键 词：WOLFRAM综合征 视神经萎缩 眼表现 

分 类 号：R741[医药卫生—神经病学与精神病学] R771.3[医药卫生—临床医学]