13例甲基丙二酸血症患儿眼部临床特征分析  

Analysis of ocular clinical features in 13 children with methylmalonic acidemia

作　　者：史丽英 孙先桃 卢跃兵 孙爽[1] 黄云云[1] 徐利辉 余继锋 Shi Liying;Sun Xiantao;Lu Yuebing;Sun Shuang;Huang Yunyun;Xu Lihui;Yu Jifeng(Department of Ophthalmology,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Henan Key Laboratory of Children's Genetics and Metabolic Diseases,Zhengzhou 450018,China;Department of Ophthalmology,Beijing Children's Hospital,National Center for Children's Health,Capital Medical University,Beijing 100045,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院眼科,郑州450018 [2]国家儿童医学中心首都医科大学附属北京儿童医院眼科,北京100045

出　　处：《中华眼底病杂志》2023年第1期28-33,共6页Chinese Journal of Ocular Fundus Diseases

摘　　要：目的观察甲基丙二酸血症(MMA)患儿眼部临床特征。方法回顾性临床病例研究。2019年6月至2022年6月于河南省儿童医院眼科就诊的MMA患儿13例纳入研究。患儿均于表面麻醉或全身麻醉下行眼前节及眼底检查。行最佳矫正视力(BCVA)、屈光检查9例;荧光素眼底血管造影(FFA)检查3例;闪光视网膜电图(FERG)检查6例;闪光视觉诱发电位(FVEP)检查6例;光相干断层扫描(OCT)检查3例。结果13例患儿中,男性6例,女性7例。首次就诊眼科平均年龄为45个月。均合并高同型半胱氨酸血症。伴癫痫、婴儿痉挛症分别为9、2例;发育迟缓11例;生长发育期伴反复肺部感染13例;脑积水4例;高血压、肾功能不全1例。8例患儿有基因检测结果记录,均发现MMACHC:c.609G>A:p.W203*突变位点。角膜溃疡1例;眼球震颤10例;黄斑病变4例;伴远视、内斜视3例。行BCVA检查的9例,BCVA为光感~0.6;行OCT检查的3例中,黄斑区视网膜变薄、光感受器细胞层萎缩2例。行FFA检查的3例中,黄斑区可见类圆形透见荧光2例。行FVEP检查的6例中,不同程度P100波峰时延迟及振幅降低5例;行FERG检查的6例中,a、b波各反应振幅降低4例。结论MMA患儿眼部临床表型多样,严重程度不一;多伴有眼球震颤,眼底病变以黄斑区病变常见;出现黄斑病变者视力损害较重。Objective To observe the clinical features of eyes in children with methylmalonic acidemia(MMA).Methods A retrospective clinical case study.From June 2019 to June 2022,13 children with MMA visited on the Department of Ophthalmology of Henan Children's Hospital were included in the study.The anterior segment and fundus were examined under surface or general anesthesia.Best corrected visual acuity(BCVA)and refraction were performed in 9 cases;fluorescein fundus angiography(FFA)was performed in 3 cases;flash electroretinogram(FERG)was performed in 6 cases;flash visual evoked potential(FVEP)was detected in 6 cases;optical coherence tomography(OCT)was performed in 3 cases.Results Among the 13 pediatric patients with methylmalonic acidemia,6 cases were male and 7 cases were female.The average age at first visit was 45 months.All cases suffered from hyperhomocysteinemia;9 cases were with epilepsy;2 cases were with infantile spasms;11 cases were with stunting,13 cases were with repeated pulmonary infection during growth period;4 cases were with hydrocephalus;1 cases was with hypertension and renal insufficiency.Genetic dectection results of 8 cases were recorded,MMACHC:c.609G>A:p.W203*mutation site was found in all cases.One case was accompanied by corneal ulcer.There were 10 cases with nystagmus,4 cases with macular degeneration,3 cases with hyperopic refractive error and esotropia.Nine cases underwent BCVA examination,BCVA was light perception-0.6.In OCT,2 cases of 3 cases showed retinal thinning and photoreceptor cell layer atrophy in the macular area.In FFA,2 cases of 3 cases showed circular transparent fluorescence in the macular area.Five cases of 6 cases who with FVEP had different degrees of P100 peak time delay and decreased amplitude,and 4 cases of 6 cases with FERG had decrease of a and b wave in light and dark adaptation.Conclusions The clinical phenotypes of eyes in children with MMA are various and the severity was different;most of them are accompanied by nystagmus,and the fundus lesions are common in the

关 键 词：婴儿 甲基丙二酸血症 黄斑病变 眼球震颤 MMACHC基因突变 

分 类 号：R77[医药卫生—眼科]