title: Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.
abstract: BACKGROUND
  A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood.
  
  
  METHODS
  The family history was collected and the proband underwent regular ophthalmologic examinations. Venous blood was collected from family members and genomic DNA was extracted. All exons and exon-intron boundaries of the RS1gene were sequenced for gene mutation in this family.
  
  
  RESULTS
  The pedigree of interest was a three-generation family with 43 family members, including three affected individuals. The proband clinically diagnosed with XLRS was investigated at 7 years of age with a follow-up of 32 years. Best corrected visual acuity was stable and complications such as vitreous hemorrhage, retinal detachment, and subcapsular cataract arose during this follow-up period. The R213Q mutation in exon6 of RS1 was identified in all affected individuals.
  
  
  CONCLUSIONS
  Clinical follow-up of an XLRS patient with a typical juvenile retinoschisis phenotype revealed no significant decline in visual acuity during this time period. Various complications such as vitreous hemorrhage and cataract may occur during the progression of the disease which may lead to severe vision loss.
authors.affiliation: Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Xu
authors.forename: Ruifang
authors.initials: R
authors.lastname: Sui
authors.forename: Fangtian
authors.initials: F
authors.lastname: Dong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D041441:Retinoschisis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014463:Ultrasonography; D014792:Visual Acuity / Q000502:physiology
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human