Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis

  • Kelaginamane T. Hiriyanna
  • Rita Singh-Parikshak
  • Eve L. Bingham
  • Jennifer A. Kemp
  • Radha Ayyagari
  • Beverly M. Yashar
  • Paul A. Sieving


We have analyzed 145 RS families for mutations in the XLRS1 gene and have sought clinical correlation of phenotype severity with the type and location of mutation in a subset of these families. Some of the RS families exhibited consistency of either severe or mild clinical phenotypes in multiple affected male members. Intrafamilial variability of clinical phenotypes was encountered in affected males of several other RS families.


Retinal Detachment Macular Hole Severe Phenotype Splice Site Mutation Outer Nuclear Layer 
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Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Kelaginamane T. Hiriyanna
  • Rita Singh-Parikshak
  • Eve L. Bingham
  • Jennifer A. Kemp
  • Radha Ayyagari
  • Beverly M. Yashar
  • Paul A. Sieving
    • 1
  1. 1.Department of Ophthalmology and Visual Sciences, Kellogg Eye CenterUniversity of MichiganAnn ArborUSA

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