X-linked juvenile retinoschisis： phenotypic and genetic characterization  

作　　者：Rasa Strupaite Laima Ambrozaityte Loreta Cimbalistiene Rimvydas Asoklis Algirdas Utkus 

机构地区：[1]Center of Eye Diseases, Clinic of Ear, Nose, Throat, and EyeDiseases, Institute of Clinical Medicine, Faculty of Medicine,Vilnius University, Vilnius LT-01513, Lithuania [2]Department of Human and Medical Genetics, Institute ofBiomedical Sciences, Faculty of Medicine, Vilnius University,Vilnius LT-01513, Lithuania [3]Center for Medical Genetics, Vilnius University HospitalSantaros Klinikos, Vilnius LT-08661, Lithuania

出　　处：《International Journal of Ophthalmology(English edition)》2018年第11期1875-1878,共4页国际眼科杂志（英文版）

摘　　要：Juvenile X-linked retinoschisis（XLRS, MIM#312700） belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschisis and typical cyst-like cavities on spectral-domain optical coherence tomography（SD-OCT） images. The mean central foveal thickness was 569.7 μm. Two patients presented with peripheral retinoschisis. Flash electroretinogram demonstrated a reduced b/a ratio（〈1.0） in all patients. RS1（NM_000330.3） gene coding exons Sanger sequencing was performed. RS1 c.599 G〉T（p.R200 L） mutation was detected in one case, showing to be pathogenic in silico analysis. c.（92_97） ins C（p.W33 fs） mutation was identified for another patient, indicating the variant is possibly damaging in silico analysis. The third case was identified with a pathogenic mutation c.422 C〉G（p.R141 H）, HGMD CM981753. These are the first cases of XLRS in the Lithuanian population confirmed by molecular genotyping. Presented patients had a different genotype but similar phenotypic traits.Juvenile X-linked retinoschisis（XLRS, MIM#312700） belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschisis and typical cyst-like cavities on spectral-domain optical coherence tomography（SD-OCT） images. The mean central foveal thickness was 569.7 μm. Two patients presented with peripheral retinoschisis. Flash electroretinogram demonstrated a reduced b/a ratio（〈1.0） in all patients. RS1（NM_000330.3） gene coding exons Sanger sequencing was performed. RS1 c.599 G〉T（p.R200 L） mutation was detected in one case, showing to be pathogenic in silico analysis. c.（92_97） ins C（p.W33 fs） mutation was identified for another patient, indicating the variant is possibly damaging in silico analysis. The third case was identified with a pathogenic mutation c.422 C〉G（p.R141 H）, HGMD CM981753. These are the first cases of XLRS in the Lithuanian population confirmed by molecular genotyping. Presented patients had a different genotype but similar phenotypic traits.

关 键 词：X-linked retinoschisis RS1 mutation optical coherence tomography ELECTRORETINOGRAM 

分 类 号：R77[医药卫生—眼科]