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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-09-2019
Symbol RP84
Location 16q22.2
Name Retinitis pigmentosa 84
Corresponding gene DHX38
Main clinical features
  • early-onset retinitis pigmentosa and macular coloboma with night blindness in early age, and later complete blindness (no light perception);
  • funduscopic examination severely attenuated retinal vessels throughout the fundus, and the maculae were severely affected bilaterally, with unusually prominent and deep macular colobomas devoid of neuroretinal tissue
  • electrophysiologic responses of both rod and cone photoreceptors were severely reduced compared to control
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease