以视力下降为首发症状的遗传性运动感觉性神经病Ⅵ型1例
摘要
资料患者女性,18岁。因发现双眼视力下降半年,于2021年6月15日就诊于本院神经眼科。半年前,在学校体检中发现双眼视力下降及色觉异常,无眼痛,无复视。未予重视及治疗,症状无改善,遂来院就诊。门诊查双眼裸眼视力:左眼0.1,右眼0.1。眼底彩色照片检查示双眼颞侧视盘苍白(图1)。光学相干层析成像(optical coherence tomography,OCT):双眼视盘及黄斑区结构未见明显异常(图2)。视野检查:双眼光敏度弥漫性下降伴局限性视野缺损(图3)。视觉诱发电位:60′空间频率及15′空间频率中,右眼P100波振幅值均轻度降低,左眼P100波振幅值均中度降低且峰时均较右眼延迟。为进一步诊治,门诊以“视神经病变”诊断收住院。既往体健。无相同疾病家族史。
出处
《中国眼耳鼻喉科杂志》
2023年第1期90-92,98,共4页
Chinese Journal of Ophthalmology and Otorhinolaryngology
参考文献2
-
1吕鹤,洪道俊,李务荣,王朝霞,袁云.线粒体融合蛋白2基因新突变导致的遗传性运动感觉性神经病6型一家系[J].中华神经科杂志,2011,44(10):702-705. 被引量：2
-
2徐青,宫朝举,乔磊,彭颖,刘亚鲁,刘海洋,李甦雁.遗传性2A型进行性腓骨肌萎缩症并发视神经萎缩一例[J].中华实验眼科杂志,2018,36(7):536-538. 被引量：1
二级参考文献21
-
1McLeod JG,Low PA,Morgan JA.A family with Charcot-Marie-Tooth disease and Leber' s optic atrophy.Proc Aust Assoc Neurol,1975,12:23-25.
-
2Sommer C,Schr(o)der JM.Hereditary motor and sensory neuropathy with optic atrophy.Ultrastructural and morphometric observations on nerve fibers,mitochondria,and dense-cored vesicles. Arch Neurol,1989,46:973-977.
-
3Dyck PJ,Chance P,Lebo R,et al.Hereditary motor and sensory neuropathies//Dyck PJ, Thomas PK, Griffin JW, et al.Peripheral neuropathy.Volume 2.3rd ed.Philadelphia:W.B.Saunders,1993:1094-1123.
-
4Züchner S,De Jonghe P,Jordanova A,et al.Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.Ann Neurol,2006,59:276-281.
-
5Ouvrier R,Grew S.Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2:an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.Dev Med Child Neurol,2010,52:328-330.
-
6Vallat JM,Ouvrier RA,Pollard JD,et al. Histopathological findings in hereditary motor and sensory neuropathy of axoanl type with onset in early childhood associated with mitofusin 2mutations.J Neuropathol Exp Neurol,2008,67:1097-1102.
-
7Chalmers RM,Riordan-Eva P,Wood NW.Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.J Neurol Neurosurg Psychiat,1997,62:385-387.
-
8Chung KW,Kim SB,Park KD,et al.Early onset severe and lateonset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2)mutations.Brain,2006,129:2103-2118.
-
9Verhoeven K,Claeys KG,Züchner S,et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.Brain,2006,129:2093-2102.
-
10Banchs I,Casasnovas C,Montero J,et al.Two Spanish families with Charcot-Marie-Tooth type 2A:clinical,electrophysiological and molecular findings. Neuromuscul Disord,2008,18:974-978.
-
1吴细英,严明.结膜恶性黑色素瘤2例[J].临床眼科杂志,2022,30(6):550-551.
-
2肖燕玲,王之瑾,黄一鸿,吴瑜瑜.以视力下降为首发症状的鼻咽癌2例[J].中国医药科学,2022,12(24):197-200.
-
3姚帮桃,王蓓,赵孝贵,刘刚.激光手电致儿童双眼黄斑损伤1例[J].中国眼耳鼻喉科杂志,2023,23(1):96-98.
-
4树儿.愿弃生命年华 能换父母白发[J].老同志之友（上半月）,2022(12):37-37.
-
5安喜艳.青光眼的症状[J].开卷有益（求医问药）,2022(12):40-40.
