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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-10-2016
Symbol RP75
Location 2p23.3
Name retinitis pigmentosa 75
Corresponding gene AGBL5
Main clinical features
  • retinitis pigmentosa with onset between 7 and 12 years of age with tunnel vision and night blindness; other features included myopia, astigmatism
  • fundus examination revealed bone spicule pigmentation, attenuation of retinal vessels, and waxy pallor of the optic disc
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease