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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-11-2020
Symbol RP55
Location 3q11.2
Name retinitis pigmentosa 55
Corresponding gene ARL6
Main clinical features
  • blurred vision and nyctalopia in infancy
  • funduscopy showed pale optic discs, retinal vessel attenuation, and salt-and-pepper retinopathy
  • no recognizable primary or secondary features of BBS other than retinitis pigmentosa
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease