先天性眼外肌纤维化综合征家系视神经影像学及视觉诱发电位研究  

Magnetic resonance imaging and visual evoked potential in two Chinese families with congenital fibrosis of extraocular muscles

作　　者：吴丽 周炼红[2] 张俊涛[2] 邢怡桥[2] 

机构地区：[1]新华医院眼科,湖北省武汉市430060 [2]武汉大学人民医院眼科,湖北省武汉市430060

出　　处：《眼科新进展》2012年第10期956-959,共4页Recent Advances in Ophthalmology

基　　金：湖北省科技攻关项目(编号:2006AA301B58)~~

摘　　要：目的研究先天性眼外肌纤维化综合征(congenital fibrosis of extraocular muscles,CFEOM)家系发病者视神经形态特征及功能,探讨CFEOM患者视功能缺陷的发病机制。方法收集2个CFEOM家系,家系一临床表现符合CFEOM1,家系二临床表现符合CFEOM3。对两家系17例34眼患者(家系一3例患者,家系二14例患者,男5例、女12例,年龄8～62岁,平均34.4岁)作为试验组进行矫正视力和图形视觉诱发电位(pattern visual evoked potential,PVEP)检查,随后对17例患者进行高分辨率MRI扫描。随机抽取18个正常人(男女各9人,年龄10～59岁,平均35.1岁,共36眼)作为对照组。扫描方法:眼眶部行3mm层厚、T1加权MRI扫描;颅内行1mm层厚、3DFIESTA扫描;比较2组视神经的变化。结果家系所有患者(除家系二患者Ⅱ-5仅右侧上睑下垂)均具有不同程度的屈光不正、先天性双眼上睑下垂、眼球各方向不同程度的运动受限,第一眼位固定于下转位,上转不超过中线等典型的CFEOM临床特征。部分CFEOM患者(家系一患者Ⅲ-1,家系二患者Ⅱ-2、Ⅲ-1、Ⅲ-4、Ⅲ-5、Ⅲ-15、Ⅳ-1)PVEP检查显示有单眼或双眼潜伏时间延长(P100>108ms)或相对延长(双眼潜伏时间差值>8ms),振幅有不同程度降低(N75-P100<10μV)。MRI扫描显示正常对照组眶内段视神经体积为(786.85±95.65)mm3,试验组视神经体积为(731.19±104.38)mm3,差异有统计学意义(t=2.292,P=0.025),相对应眼视神经较正常对照组细且向鼻上方移位。结论 CFEOM患者视功能缺陷可能与视神经发育缺陷有关。Objective To study the feature of the optic nerve’s morphology and function of humans with congenital fibrosis of extraocular muscles （CFEOM）,and explore the defect of visual function about CFEOM.Methods Two CFEOM pedigrees were collected,one’s clinical performance was accorded with CFEOM1,the other was CFEOM3.Seventeen volunteers （34 eyes） from two CFEOM pedigrees were set as observation group,the corrected visual acuity and pattern visual evoked potential （PVEP） were examined,then the magnetic resonance imaging （MRI） examination was performed.A total of 18 normal persons were set as control group.The optic nerve changes were observed.Results All patients of the families （except patient II-5 in pedigreeⅡwith unilateral blepharoptosis） had bilateral blepharoptosis,head tilt,chin lift,primary gaze fixed in a hypic-and exotropic- position,forced duction testing positive,but vertical and horizontal positions of the eye and restriction of eye movement were different among affected individuals.PVEP examination showed that the latency of P100 evoked potential about one or both eyes of some affected subjects（patient Ⅲ-1 in pedigreeⅠ;patientⅡ-2,Ⅲ-1,Ⅲ-4,Ⅲ-5,Ⅲ-15,Ⅳ-1 in pedigreeⅡ）extended （P100108 ms） or relatively extended （the difference about P100 between two eyes 8 ms）,the amplitude decreased in vary degrees（N75-P10010 μV）.And MRI demonstrated the intraorbital segment of optic nerve volume in normal group and observation group were （786.85±95.65）mm3 and （731.19±104.38）mm3,respectively,there was statistical difference（t=2.292,P=0.025）,the optic nerve of corresponding eye in observation group was thinner than that in control group,and also moved to the anterior nasal side.Conclusion The visual function impairment of CFEOM may be related with the development defect of optic nerve.

关 键 词：眼外肌纤维化 视神经 视觉诱发电位 磁共振 

分 类 号：R777.4[医药卫生—眼科]