眼咽远端型肌病相关眼部病变临床特征分析

Clinical ocular characteristics of different genotypes of oculopharyngodistal myopathy

目的研究国人眼咽远端型肌病(OPDM)相关眼部病变特征,分析不同基因突变类型OPDM眼部受累的差异。方法2021年2~10月经神经内科确诊OPDM患者,所有病例均行详细眼部及各项辅助检查,收集其特征性病变。多模式眼科检查包括最佳矫正视力、眼部照相及自发荧光(AF)、光学相干层析成像(OCT)、视网膜电图、多焦视网膜电图等。将病例按照基因检测结果分为OPDM2(GICP1)组、OPDM3(NOTCH2NLC)组及基因型未知组,采用SPSS统计学软件分析各种临床表现及影像学检查异常率在各组间的差异。结果确诊OPDM患者共15例,其中GICP1突变7例,NOTCH2NLC突变5例,已知OPDM相关基因均为阴性3例。平均BCVA在基因型未知组、OPDM2组和OPDM3组分别为0.4±0.3、1.0±0.0和0.6±0.3,组间差异有统计学意义。上睑下垂、眼球运动障碍、眼睑闭合不全发生率3组间差异无统计学意义。3组间眼底AF和黄斑区OCT结构异常比例差异具有统计学意义,OPDM2组无一例见眼底、AF及OCT结构异常,OPDM3组AF及OCT结构异常率为100%,眼底异常率为60%。结论OPDM不同基因型间临床表现存在不同,除广泛眼睑和眼球运动障碍外,OPDM3常伴有不同程度视网膜变性改变,而OPDM2通常并不累及视网膜。

Objective To analyze the clinical ocular characteristics of oculopharyngodistal myopathy(OPDM)with different gene mutation types in a Chinese cohort.Methods Patients diagnosed with OPDM from February to October in 2021 by the neurologists were evaluated with multimodal imaging methods.Ocular characteristics and work-up including best corrected vision acuity(BCVA),fundus photography,autofluorescence,optical coherence tomography(OCT),electroretinogram,and multifocal electroretinogram were collected.Patients were divided into 3 groups according to the results of genetic testing:OPDM2(GICP1)group,OPDM3(NOTCH2NLC)group,and genotype unknown group.SPSS statistical software was used to analyze the differences among the groups.Results Fifteen patients were included.Among them,there were 7 cases of GICP1 mutation,5 cases of NOTCH2NLC mutation,and 3 cases of unknown genotype.The average BCVA in the unknown genotype group,OPDM2 group and OPDM3 group were 0.4±0.3,1.0±0.0 and 0.6±0.3,respectively,which showed statistically significant differences among groups.The percentage of ptosis,extra-ophthalmoplegia and lagophthalmos showed no statistically significant difference among three groups.The proportions of fundus autofluorescence and macular OCT structure abnormalities had statistically difference among three groups.There was no case with fundus,autofluorescence or OCT structural abnormalities in OPDM2 group.The abnormal rate of autofluorescence and OCT structure in OPDM3 group was 100%,and of fundus was 60%.Conclusions The clinical ocular manifestations of OPDM were diverse among different genotypes.In addition to extensive extra-opthalmoplegia,OPDM3 is often accompanied by various degrees of retinal degeneration,whereas OPDM2 usually with un-attacked retina.