title: Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
abstract: OBJECTIVE
  X-linked juvenile retinoschisis (XLRS) is one of the most common causes of juvenile macular degeneration in males, characterized by microcystic changes, splitting within the inner retinal layer (schisis), and the presence of vitreous veils. This study was conducted to describe and further correlate specific genetic variation in Spanish patients with XLRS with clinical characteristics and additional ophthalmic complications.
  
  
  METHODS
  The study was performed in 34 Spanish families with XLRS, comprising 51 affected males. Thorough clinical ophthalmic and electrophysiological examinations were performed. The coding regions of the RS1 gene were amplified by polymerase chain reaction and directly sequenced. Haplotype analyses were also performed.
  
  
  RESULTS
  Twenty different mutations were identified. Ten of the 20 were novel and 3 were de novo mutational events. The most common mutation (p.Gln154Arg; 6/20) presented a common haplotype. RS1 variants did not correlate with ophthalmic findings and were not associated with additional ophthalmic complications.
  
  
  CONCLUSIONS
  The prevalent p.Gln154Arg mutation is first reported in this work and presents a common origin in Spanish patients with XLRS. In addition, de novo mutations mainly occur in CG dinucleotides. Despite the large mutational spectrum and variable phenotypes, no genotype-phenotype correlations were found. Identifying the causative mutation is helpful in confirming diagnosis and counseling, but cannot provide a prognosis.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain. rriveiro@fjd.es
authors.forename: Rosa
authors.initials: R
authors.lastname: Riveiro-Alvarez
authors.forename: Maria-Jose
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: Ascension
authors.initials: A
authors.lastname: Gimenez-Pardo
authors.forename: Maria
authors.initials: M
authors.lastname: Garcia-Hoyos
authors.forename: Miguel-Angel
authors.initials: MA
authors.lastname: Lopez-Martinez
authors.forename: Jana
authors.initials: J
authors.lastname: Aguirre-Lamban
authors.forename: Blanca
authors.initials: B
authors.lastname: Garcia-Sandoval
authors.forename: Silvia
authors.initials: S
authors.lastname: Vazquez-Fernandez del Pozo
authors.forename: Diego
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: Almudena
authors.initials: A
authors.lastname: Avila-Fernandez
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso