title: X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene.
abstract: OBJECTIVE
  To describe the clinical features and identify the disease causing mutation in a family with X-linked retinoschisis.
  
  
  METHODS
  Cohort study.
  
  
  METHODS
  Genealogical investigation and mutation screening of the XLRS1 gene were performed in a four generation family of Icelandic ancestry. Three affected family members were evaluated clinically over a 29-year period.
  
  
  RESULTS
  A rarely reported, four base pair deletion (375- 378 del AGAT) in exon 5 of the XLRS1 gene was found in all affected males. A high degree of intrafamilial variability was observed in the progression of the disorder over 29 years.
  
  
  CONCLUSIONS
  Identification of the disease causing mutation in this family allows for the diagnosis of individuals at risk for this inherited macular degeneration. Furthermore, the long-term follow-up of subjects with identical mutations helps to better characterize the highly variable clinical course of this disorder.
authors.affiliation: Henry and Corinne Bower Laboratory, Wills Eye Hospital and the Eye Research Institute, Philadelphia, Pennsylvania 19107, USA.
authors.forename: Avinash
authors.initials: A
authors.lastname: Tantri
authors.forename: Tamara R
authors.initials: TR
authors.lastname: Vrabec
authors.forename: Andrew
authors.initials: A
authors.lastname: Cu-Unjieng
authors.forename: Arcilee
authors.initials: A
authors.lastname: Frost
authors.forename: William H
authors.initials: WH
authors.lastname: Annesley
authors.forename: Larry A
authors.initials: LA
authors.lastname: Donoso
mesh_terms: D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human