格子状角膜营养不良一家系系谱特点及临床特征分析  

Pedigree and clinical characteristics in a Chinese family with lattice corneal dystrophy

作　　者：彭诗茗 赵军[1] 祝天辉 黄晓生[1] 陈文杰[1] 梅韶仪 王燕[1] 

机构地区：[1]深圳市眼科医院暨南大学附属深圳眼科医院深圳眼科学重点实验室,518040

出　　处：《中华实验眼科杂志》2017年第8期704-708,共5页Chinese Journal Of Experimental Ophthalmology

基　　金：深圳市科技计划项目（JcYJ20140415174819509、GJHZ20160229170608241）

摘　　要：背景在同一个家系中分析格子状角膜营养不良（LCD）不同发病阶段的动态临床特征及促进LCD发生和发展的因素尚鲜有报道。目的分析连续5代均有LCD发病的一家系系谱特征，认识不同发病阶段的LCD临床表型特点，讨论可能促进LCD发生和发展的因素。方法采用横断面研究方法，纳入2015—2016年在深圳市眼科医院就诊的LCD一家系，对所有家系成员进行病史问卷调查、视力、裂隙灯显微镜检查及眼前节照相，对5名家系成员进行角膜激光扫描共焦显微镜和眼前节OCT（AS—OCT）检查，对14名家系成员进行角膜内皮镜检查，观察该家系中LCD患者的临床表型和分期，采用Cyrillic2．1软件绘制系谱图，按照孟德尔遗传定律进行系谱分析。结果该家系共5代73名成员，每代均有患病者，男女患病机会大致相同，符合常染色体显性遗传规律。与LCD发病者I1具有血缘关系者共49人，其中患病者11例，患病率为22．45％（11／49），发病年龄为21～50岁，病程3～34年，家系中除2名成员（Ⅲ1和Ⅲ5）患有高血压病外，其余均无全身性疾病。疾病早期角膜基质中出现分叉状细线条，随着病情进展线条增多、增粗交织成格子状，并可出现角膜浸润，此期常伴随明显的角膜刺激症状及视力下降，继而形成片状角膜斑翳，最终导致角膜白斑，甚至近全角膜瓷白色改变。激光扫描共焦显微镜及AS-OCT检查均可见角膜病灶区呈高反光。患病者与家系正常成员角膜内皮细胞密度和六角形细胞百分比的比较，差异均无统计学意义（t=1．887，P=0．075；t=-0．719，P=0．481）。1例患病者因角膜混浊行右眼角膜移植术，术后1年沿角膜手术切口出现向心性白色混浊；1例患病者接受双眼准分子激光角膜原位磨镶术，术后2年确诊为LCD；1例患病者为电焊工人。结论该LCD家系为常染色体显性遗传，患病�Background Lattice corneal dystrophy （LCD） is a progressive disease,whose clinical features are varied in different stages. It is rarely be reported that clinical findings of different stages and factors of promoting the occurrence and development on LCD in a family. Objective The aim of this study was to identify the characteristics of the pedigree and clinical features of different stages in a LCD family, and further to discuss its influence factors. Methods A cross-sectional study was performed in this study. A Chinese family with LCD was enrolled in Shenzhen Eye Hospital from 2015 to 2016. Questionnaires for disease-related history, visual acuity measurement, ocular anterior segment examination and color photography were carried out for all the members of the family. In addition, anterior segment OCT （AS-OCT）, laser scanning confocal microscope and corneal endothelium microscope were used to observe the morphology of corneal stroma and changes of corneal endothelial cells. The pedigree chart was drawn by Cyrillic2.1 software and analyzed based on Mendel law. Results This family included 5 generations of 73 members. Patients with LCD were found in each generation with similar morbidity in different gender,which followed the law of autosomal dominant inheritance. Eleven patients were found in 49 members related with Ⅲ1 of this family with the prevalence rate of 22.45% and onset age at 21-50 years old,and the course of disease was 3-34 years. All of the members had no systemic disease except for two patients （Ⅲ 1 and Ⅲ 5） with hypertension. In the early stage of LCD, some bifurcate striolae appeared in the patients＂ corneal stroma without symptoms for many years. In the progressive stage, there was corneal irritation symptom accompanying with vision＇s decrease in the eyes with LCD. The bifurcate striolae were increased,widened and interwoven into lattice lines that the boundaries gradually became fuzzy, then corneal macula was formed because of recurrent corneal infiltration, and eventually

关 键 词：遗传角膜营养不良/病理性 家系/遗传 常染色体显性遗传 表型 环境暴露 疾病进展 格子状角膜营养不良 

分 类 号：R772.2[医药卫生—眼科]