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last update : 13-10-2010
Symbol ND
Location Xp11.3
Name Norrie disease (pseudoglioma)
Other name(s)
  • atrophia bulborum hereditaria
  • episkopi blindness
  • Corresponding gene NDP
    Other symbol(s) NDP
    Main clinical features
  • bilateral congenital blindness with dense, white, vascularized mass behind each lens due to maldeveloped retina.
  • cataracts and corneal opacities are developed in young childhood, followed by bulbar atrophies
  • may be accompanied by sensorineural deafness, mental retardation, and other neurological deficits
  • Genetic determination sex linked
    Related entries DELXP11
    Function/system disorder eye
    Type disease
    Gene product
    Name putative mucin-like protein (TGFB superfamily)
    Gene mutationChromosome rearrangementEffectComments
    various types      
      deletion   contiguous gene syndrome, leading to atypical ND with extended phenotypes
    Genotype/Phenotype correlations missense mutation at position c.134T > A resulting in amino acid change at codon V45E, associated to infantile spasms and severe neurological involvement