Wolfram综合征2例

Two cases ofWolfram syndrome

2例1型糖尿病青少年患者分别于2018年和2019年参加上海市儿童青少年糖尿病眼病研究项目中确诊Wolfram综合征。既往1型糖尿病病史分别为12年和4年。视神经萎缩史分别为8年和4年。眼部检查示双眼晶状体轻度后囊膜型白内障,视神经萎缩。光学相关断层扫描检查显示,2位患者双眼视神经下方脉络膜厚度降低,视网膜神经纤维层厚度显著降低,视盘区及黄斑区血流密度及血管密度明显下降,电生理检查示振幅下降明显,视野检查呈双眼熄灭型。临床诊断为Wolfram综合征,随访中。如果1型糖尿病儿童及青少年最佳矫正视力下降且低于0.6,除常规眼科检查外,建议其早期进行视神经区域脉络膜厚度、视网膜神经纤维层厚度、视网膜血流、视网膜电图以及视野检查。有条件者建议行WFS‑1基因测序检查。

Two adolescents with T1DM participated in the Shanghai Children and Adolescent DM Eye study(SCADE)2017‑2018.The previous T1DM history of the 2 children were 12 years and 4 years respectively.The history of optic atrophy were 8 years and 4 years respectively.The ophthalmic examination showed that there were slight posterior capsule cataract and atrophy of optic atrophy in both patients.Optical Coherance Tomographic examination showed that the choroidal thickness of the inferior inner ring of the optic nerve and RNFL layer thickness decreased markedly,perfusion density and vascular density of the optic disc area and macular decreased markedly,electrophysiological examination showed that amplitude decreased markedly,and visual field examination showed binocular extinction or tubular vision field.Now the 2 adolescents were in closely followed‑up.We suggest that children with T1DM whose best corrected visual acuity decreased recently to 0.6 or lower,in addition to routine ophthalmic examination,choroidal thickness,retinal nerve fiber layer thickness,retinal blood flow,ERG and visual field examination are recommended to distinguish wolfram syndrome from T1DM.Genetic sequencing examination of WFS‑1 is also recommended if possible.