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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-10-2016
Symbol RP76
Location 1p34.1
Name retinitis pigmentosa 76
Corresponding gene POMGNT1
Main clinical features
  • nyctalopia and vision problems in infancy (age of onset ranging from 12 to 40 years)
  • later constricted visual fields, and peripapillary atrophy; funduscopy revealed bone spicule pigmentation and attenuated retinal vessels, optic disc pallor
  • in addition, rod responses were severely reduced on ERG
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease