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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-03-2011
Symbol RP31
Location 9p22-p13
HGNC id 19438
Name retinitis pigmentosa 31
Corresponding gene TOPORS
Main clinical features
  • French Canadian family, presenting with early onset retinitis pigmentosa
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease