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GENATLAS PHENOTYPE
last update : 16-09-2013
Symbol CORD23
Location 6p21.1
Name retinal cone-rod dystrophy 23
Other name(s) Choroidal dystrophy, central areolar 2
Corresponding gene PRPH2
Other symbol(s) CACD2
Main clinical features
  • characterized by initial loss of visual acuity and abnormal color vision, followed by night blindness and peripheral visual field loss, punctate pigmentary maculopathy and mild RPE atrophy
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R172W, also found in macular dystrophy
    Remark(s)