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 ...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.展开更多
X-linked juvenile retinoschisis （XLRS, OMIM： 312700） s an inherited X-linked recessive vitreoretinal dystrophy that is a leading cause of juvenile retinal degeneration, with a worldwide prevalence ranging from 1：5...X-linked juvenile retinoschisis （XLRS, OMIM： 312700） s an inherited X-linked recessive vitreoretinal dystrophy that is a leading cause of juvenile retinal degeneration, with a worldwide prevalence ranging from 1：5 000 to 1：25 000. Finland has the highest reported incidence. The condition is characterized by microcystic- like changes of the macular region of the retina and schisis,展开更多
基金Supported by the National Key Basic Research Program(2013CB967502,2013CB967503)Most Major Projects(2012YQ12008004)+1 种基金Qianjiang Talents Project(2012R10072)Zhejiang Provincial Natural Science Foundation of China(No.LR13H120001)
文摘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.
文摘X-linked juvenile retinoschisis （XLRS, OMIM： 312700） s an inherited X-linked recessive vitreoretinal dystrophy that is a leading cause of juvenile retinal degeneration, with a worldwide prevalence ranging from 1：5 000 to 1：25 000. Finland has the highest reported incidence. The condition is characterized by microcystic- like changes of the macular region of the retina and schisis,
