X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

J Med Genet. 2005 Jun;42(6):e35. doi: 10.1136/jmg.2004.029769.


Background: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable.

Aim: To determine whether there is a correlation between mutation type and disease severity.

Methods: We identified the causative mutation in 86 affected patients and examined each of these patients in detail. Different categories of mutation were compared for each phenotypic characteristic.

Results: We found a reduction in visual acuity with increasing age and worsening macular pathology in patients over 30 years old (p < or = 0.001), but there was no correlation between mutation type and severity of disease. Furthermore, we found a wide variation in phenotype even within families.

Conclusions: Identifying the causative mutation in patients with X-linked retinoschisis is helpful in confirming diagnosis and in counselling of family members but cannot be used to predict prognosis for an individual patient.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Retinoschisis / diagnosis*
  • Retinoschisis / genetics
  • United Kingdom


  • Eye Proteins
  • RS1 protein, human