摘要
目的探讨2个携带线粒体DNA 14484T>C突变的Leber遗传性视神经病变(LHON)家系的临床特征。方法对2个家系进行详细的临床和眼科学检查,通过视力、眼底照片、视野、光学相干断层扫描OCT等分析患者眼科特征。结果 2个家系中9个母系成员(6例男性和3例女性)表现为不同程度的视力丧失,2个家系外显率分别为40%和75%,患者平均发病年龄为(22.4±7.6)岁。所有患者眼底均表现为视盘苍白,边界清楚,视野检查一家系先证者表现为中心或旁中心暗点,另一先证者部分象限视野缺损。光学相干断层扫描OCT示患者视网膜神经纤维层(RNFL)厚度在各个象限均有不同层度变薄,以颞侧最薄,而携带m.14484T>C突变但未发病的成员RNFL厚度在颞侧变薄,其余象限未见明显改变。结论携带线粒体DNA 14484T>C突变的Leber遗传性视神经病变的患者多见于中青年男性,表现为双眼不同程度视力下降,视野表现为中心或旁中心暗点,视网膜神经纤维层(RNFL)厚度在不同象限均有变薄,以颞侧象限改变明显。
Objective To investigate the clinical characteristics of two Leber's hereditary optic neuropathy(LHON)families carrying mitochondrial DNA14484T>C mutation.Methods Detailed clinical and ophthalmological examinations were performed on2families.The ophthalmic characteristics of the patients were analyzed by visual acuity,fundus photograph,visual field,optical coherence tomography OCT.Results9maternal members(6males and3females)in the two families showed varying degrees of visual loss.The penetrance rate in the two families was40%and75%,respectively.The average age of onset was(22.4±7.6)years old.The fundus of all patients showed pale discs with clear boundaries.Through visual field inspection of a family,propositus showed a central or paracentral dark spot.Another propositus showed partial quadrant visual field defects.Optical coherence tomography(OCT)showed that the thickness of the patient's retinal nerve fiber layer(RNFL)was thinned at different degrees in each quadrant.The thinnest side was at the temporal side.The thickness of the RNFL of the member carrying the m.14484T>C mutation but without onset was thinned at the temporal side.There were no significant changes in the remaining quadrants.Conclusion Patients with Leber's hereditary optic neuropathy carrying mitochondrial DNA14484T>C mutation are more common in young and middle-aged men.The performance is that the visual acuity decreases in different degrees in both eyes,the visual field showed central or paracentral dark spots,and the thickness of the retinal nerve fiber layer(RNFL)is thinned in different quadrants.The change in the temporal quadrant is obvious.
作者
梁敏
侯玲玲
LIANG Min;HOU Lingling(Medical Laboratories,the First Hospital of Wenzhou Medical University,Wenzhou 325035,China)
出处
《中国现代医生》
2018年第33期1-5,169,共6页
China Modern Doctor
基金
国家自然科学基金青年科学基金项目(81600769)
关键词
LEBER遗传性视神经病变
线粒体基因
视野检查
光学相干断层扫描
Leber's hereditary optic neuropathy(LHON)
Mitochondrial DNA
Visual field examination
Optical coherence tomography(OCT)
