CACNA1F基因变异相关眼病临床表型特征  

Clinical characteristics in ocular diseases with CACNA1F genetic variants

作　　者：王平 谢黎 郗晓芸 欧芸祯 潘娅 杨东生 Wang Ping;Xie Li;Xi Xiaoyun;Ou Yunzhen;Pan Ya;Yang Dongsheng(Changsha Aier Eye Hospital of Aier Eye Hospital Group Company,Changsha 410015,China;Aier Institute of Optometry and Vision Science,Changsha 410015,China;Aier Vision Rehabilitation Institute,Changsha 410015,China;Jinan Purui Eye Hospital,Jinan 250102,China)

机构地区：[1]爱尔眼科医院集团股份有限公司长沙爱尔眼科医院,长沙410015 [2]爱尔视光研究所,长沙410015 [3]爱尔视觉康复研究所,长沙410015 [4]济南普瑞眼科医院,济南250102

出　　处：《中华眼底病杂志》2024年第6期443-448,共6页Chinese Journal of Ocular Fundus Diseases

基　　金：爱尔集团科研基金项目(AMK2308D02)。

摘　　要：目的观察CACNA1F基因变异相关眼病患者临床表型特征。方法回顾性临床研究。2022年1月1日至2023年10月1日于长沙爱尔眼科医院和济南普瑞眼科医院经临床检查和基因检测确诊的CACNA1F基因变异相关眼病患者36例纳入研究。患者均行最佳矫正视力(BCVA)、医学验光、眼底彩色照相、光相干断层扫描(OCT)、全视野视网膜电图(ERG)、眼球震颤检查以及基因全外显子测序(WES)。采用对数视力表行BCVA检查,记录时转换为最小分辨角对数(logMAR)视力。采用眼电理仪行全视野ERG检查,采用头盔式多功能视频眼动记录(EMR)系统行眼球震颤检查。观察患者的临床表型特征。结果36例患者纳入研究。均为男性,年龄(6.69±5.26)岁。近视14例(38.89%,14/36),等效球镜度(−3.01±4.84)D。WES共发现34个不同核苷酸序列变异,其中致病性、可疑致病性、致病性不明分别为7、20、9例。logMAR BCVA 0.67±0.27;视神经萎缩26例(72.22%,26/36);视神经发育不良6例(16.67%,6/36);眼底色素发育不良伴轻度虹膜透照4例(11.11%,4/36)。中心凹发育不良(Thomas分级)1级5例(13.89%,5/36)。全视野ERG检查,暗适应最大混合反应b波降低呈负波形,振荡电位振幅严重降低。主要表现为残存型(残存暗适应0.01反应波和明适应3.0反应波,30 Hz反应下降呈双峰宽波)、明适下降为主型(明适应全熄灭,残存暗适应反应波)、全熄灭型(明适应暗适应全熄灭)3种表型,分别为10(27.78%,10/36)、8(22.22%,8/36)、18(50.00%,18/36)例。EMR结果显示,36例患者中,低振幅高频率钟摆(PLAHF)眼球震颤32例(88.89%,32/36),其中伴晃头、下颌上抬头位分别为27(75.00%,27/36)、26(72.22%,26/36)例。结论CACNA1F基因变异相关眼病临床表型多样;PLAHF眼球震颤与CACNA1F基因变异眼病密切相关。Objective To observe the clinical phenotype of patients with CACNA1F gene variant.Methods A retrospective clinical study.From January 1,2022 to October 1,2023,36 patients with CACNA1F gene mutation-related eye diseases diagnosed by clinical examination and genetic testing in Changsha Aier Eye Hospital and Jinan Purui Eye Hospital were included in the study.All patients underwent best-corrected visual acuity(BCVA),medical optometry,fundus color photography,optical coherence tomography,full-field electroretinography(ERG),nystagmus examination,and genetic whole-exon sequencing.BCVA was performed using log visual acuity charts and converted to(logMAR).The nystagmus examination was performed using a helmet-mounted multifunctional video eye movement recording system.The clinical phenotypic characteristics were observed.Results At total of 36 patients were male,aged was(6.69±5.26)years.There were 36 cases of myopia(38.89%,14/36),and the spherical equivalent was(−3.01±4.84)D.There were 14 different genetic variants including 7 cases of pathogenic variants,20 cases of suspected pathogenic variants and 9 cases of unknown pathogenic variants,respectively.logMAR BCVA was 0.67±0.27;26 patients had optic nerve atrophy(72.22%,26/36);6 had optical nerve hypoplasia(16.67%,6/36).Fundus pigment dysplasia with mild iris transillumination was found in 4 cases(11.11%,4/36).There were 5 cases of foveal dysplasia(Thomas grade)1(13.89%,5/36).In full-field ERG examination,the B-wave reduction of the maximum mixed reaction of dark adaptation showed a negative waveform,and the amplitude of the shock potential was seriously reduced.The main phenotypes were residual type(residual dark adaptation 0.01 reaction wave and bright adaptation 3.0 reaction wave,and the response decreased at 30 Hz to a double-peak wide wave),dominant type of bright adaptation decreased(all light adaptation extinguished,all dark adaptation extinguished),and total extinction type(all light adaptation extinguished).Among them,10 cases presented with residual ERG(27.

关 键 词：CACNA1F基因突变 阿兰岛眼病 不完全性先天性静止性夜盲症 视锥视杆细胞营养不良3型 眼球震颤 

分 类 号：R77[医药卫生—眼科]