title: R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Ophthalmic Genetics, Laboratory for Stem Cell & Retinal Regeneration, the Eye Hospital of Wenzhou Medical University, Wenzhou 325027, Zhejiang Province, China; ; The State Key Laboratory Cultivation Base and NHFPC Key Laboratory of Vision Science, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Huang
authors.affiliation: Division of Ophthalmic Genetics, Laboratory for Stem Cell & Retinal Regeneration, the Eye Hospital of Wenzhou Medical University, Wenzhou 325027, Zhejiang Province, China; ; The State Key Laboratory Cultivation Base and NHFPC Key Laboratory of Vision Science, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Chang-Sen
authors.initials: CS
authors.lastname: Tu
authors.affiliation: Division of Ophthalmic Genetics, Laboratory for Stem Cell & Retinal Regeneration, the Eye Hospital of Wenzhou Medical University, Wenzhou 325027, Zhejiang Province, China; ; The State Key Laboratory Cultivation Base and NHFPC Key Laboratory of Vision Science, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Dong-Jun
authors.initials: DJ
authors.lastname: Xing
authors.affiliation: Department of Ophthalmology, the EENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: De-Kang
authors.initials: DK
authors.lastname: Gan
authors.affiliation: Department of Ophthalmology, the EENT Hospital of Fudan University, Shanghai 200031, China.
authors.forename: Ge-Zhi
authors.initials: GZ
authors.lastname: Xu
authors.affiliation: Division of Ophthalmic Genetics, Laboratory for Stem Cell & Retinal Regeneration, the Eye Hospital of Wenzhou Medical University, Wenzhou 325027, Zhejiang Province, China; ; The State Key Laboratory Cultivation Base and NHFPC Key Laboratory of Vision Science, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
keywords: RS1 gene; X-linked retinoschisis; glaucoma; mutation