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Clinical observations of vitreoretinal surgery for four different phenotypes of x-linked congenital retinoschisis

International Journal of Ophthalmology(English edition) 2018年第6期11卷 986-990页

作者： Chen Zhao Qi Zhang Hai-Ying Jin Pei-Quan Zhao Department of Ophthalmology Xinhua Hospital School of Medicine Shanghai Jiao Tong University

AIM： To evaluate the outcomes of vitreoretinal surgery for four different phenotypes of x-linked retinoschisis （xLRS）. METHODS： This study included thirty-one eyes of 25 patients who developed xLRS with severe complications. Among the 31 eyes, there were 7 eyes with vitreous hemorrhage, 8 eyes with retinal detachment and vitreous hemorrhage, and 16 eyes with rhegmatogenous retinal detachment. All of the patients underwent standard three-port pars plana vitrectomy. All of the eyes were divided into 4 groups before surgery according to a modified classification scheme, with the first three groups as follows： group A, with foveal cystic schisis; group B with macular lamellar schisis; and group C with foveolamellar changes. Peripheral schisis was not present in these 3 groups; however, group D was a complex group with both macular and peripheral changes. One year after surgery, we analyzed the best corrected visual acuity and postoperative anatomical and functional outcomes of these 4 groups. RESULTS： There were 7 eyes in group A （22.6%）, 1 eye in group B （3.2%）, 15 eyes in group C （48.4%） and 8 eyes in group D （25.8%）. Postoperative anatomical and functional outcomes were satisfactory at the last visit, while the mean visual acuity was increased to 0.27±0.11, with a significant difference （t=-1.049, P=0.000） compared with the results before surgery （0.1±0.08）. Visual acuity was improved in 23 eyes （74.2%）. Complications were found in three eyes： two eyes with proliferative vitreoretinopathy and traction retinal detachment 10 and 12mo after surgery, respectively; and one eye with vitreous hemorrhage 15mo after surgery. These eyes were in groups C and D. The retinas remained attached in these 3 eyes after reoperation. CONCLUSION： We should pay greater attention to xLRS with foveolamellar changes because it is the most changeable phenotype. Once complications occur, vitreoretinal surgery can significantly improve visual acuity and restore the anatomic structur

关键词： x-linked retinoschisis complications vitreoretinal surgery

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x-linked juvenile retinoschisis： phenotypic and genetic characterization

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International Journal of Ophthalmology(English edition) 2018年第11期11卷 1875-1878页

作者： Rasa Strupaite Laima Ambrozaityte Loreta Cimbalistiene Rimvydas Asoklis Algirdas Utkus Center of Eye Diseases Clinic of Ear Nose Throat and EyeDiseases Institute of Clinical Medicine Faculty of MedicineVilnius University Vilnius LT-01513 Lithuania Department of Human and Medical Genetics Institute ofBiomedical Sciences Faculty of Medicine Vilnius UniversityVilnius LT-01513 Lithuania Center for Medical Genetics Vilnius University HospitalSantaros Klinikos Vilnius LT-08661 Lithuania

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： RS1 mutation x-linked retinoschisis electroretinogram optical coherence tomography

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R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma

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International Journal of Ophthalmology(English edition) 2014年第1期7卷 169-172页

作者： xiu-Feng Huang Chang-Sen Tu Dong-Jun xing De-Kang Gan Ge-Zhi xu Zi-Bing Jin Division of Ophthalmic Genetics Laboratory for Stem Cell & Retinal Regenerationthe Eye Hospital of Wenzhou Medical University The State Key Laboratory Cultivation Base and NHFPC Key Laboratory of Vision Science Department of Ophthalmology the EENT Hospital of Fudan University

AIM: To identify the mutations in RS1 gene associated with typical phenotype of x-linked juvenile retinoschisis(xLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. ·RESULTS: The proband showed a typical phenotype of xLRS with large peripheral retinal schisis in both eyes,involving the macula and combined with foveal cystic change,reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure(IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W(c.304C>T) mutations in the affected male,and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism(c.576C>CT). ·CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of xLRS and glaucoma. The severe xLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

关键词： x-linked retinoschisis glaucoma RS1 gene mutation

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