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References OMIM Gene GeneReviews HGMD HGNC
last update : 5/09/2006
Symbol RCD3
Location 8q21.3
Name retinal cone dystrophy 3
Corresponding gene CNGB3
Main clinical features
  • onset in childhood (ranging from 3 to 14 years of age), progressive deterioration in cone function, marked tritanopic color vision defect and at FO bilateral macular atrophy, at ERG, progressive deterioration of cone responses over time
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease