Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis.

Journal Article (Journal Article)

X-linked juvenile retinoschisis is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and blindness (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2. We report an affected family of Western European ancestry with X-linked juvenile retinoschisis. The family was found to carry a 304C-->T substitution in exon 4 of the XLRS1 gene, resulting in an Arg102Trp amino acid substitution. Two of the four available clinical cases in this family were found to carry the mutation. All available mothers of affected males were found to be unaffected carriers of the mutation, a typical feature of X-linked diseases. Two new female carriers, sisters of affected males, were identified and counseled accordingly. Questionnaires on visual functioning were given to the affected family members to examine the psychologic and sociologic impact of X-linked juvenile retinoschisis, which documented an associated stigma even when affected with a "mild" phenotype.

Full Text

Duke Authors

Cited Authors

  • Dodds, JA; Srivastava, AK; Holden, KR

Published Date

  • April 2006

Published In

Volume / Issue

  • 21 / 4

Start / End Page

  • 331 - 333

PubMed ID

  • 16900931

Pubmed Central ID

  • 16900931

International Standard Serial Number (ISSN)

  • 0883-0738

Digital Object Identifier (DOI)

  • 10.1177/08830738060210041901


  • eng

Conference Location

  • United States