title: X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
abstract: X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal degeneration in males. To date, more than 196 different mutations of the RS1 gene have been associated with XLRS. The mutation spectrum is large and the phenotype variable. This review will focus on the clinical features of XLRS and examine the relationship between phenotype and genotype.
authors.affiliation: Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston , Massachusetts , USA.
authors.forename: David Y
authors.initials: DY
authors.lastname: Kim
authors.forename: Shizuo
authors.initials: S
authors.lastname: Mukai
mesh_terms: D005136:Eye Proteins / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human