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GENATLAS PHENOTYPE
last update : 17/04/2012
Symbol RS1
Location Xp22.13
Name X-linked juvenil retinoschisis
Corresponding gene RS1
related resource X-Linked Juvenile Retinoschisis
Other symbol(s) XLRS, XLRS1, RS
Main clinical features
  • early-onset visual central visual loss from bilateral foveo-macular cystic cavities involving the inner retina
  • schisis or splitting of the nerve fiber and ganglion cell layers of the retina causing progressive blindness in males, excluding the sporadic senile form
  • electronegative bright-flash ERG configuration with abnormal pattern ERG findings confirmed macular dysfunction, with a parafoveal ring of high-density autofluorescence
  • multiple fine white dots at the macula may be the initial fundus feature
    • Genetic determination sex linked
    Prevalence 1:5,000 to 1:25,000
    Function/system disorder eye
    Type disease
    Gene product
    Name retinoschisin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutations interfering with secretion, mutations interfering with oligomerisation, and mutations that allow secretion and oligomerisation but interfere with retinoschisin function
    insertion-deletion   abnormal protein/loss of function  
    nonsense   truncated protein  
    abnormal splicing   truncated protein  
    deletion   truncated protein  
    insertion   truncated protein  
    Remark(s)
  • dysfunction of the photoreceptor synapse or of bipolar cells increases with age of XLRS subjects (PMID:22039241))