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GENATLAS PHENOTYPE
last update : 02-11-2016
Symbol RP13
Location 17p13.3
HGNC id 10267
Name retinitis pigmentosa 13
Corresponding gene PRPF8
related resource Retinal Information Network
Main clinical features
  • first symptom, night blindness, between 5 and 20 years followed by visual field loss after 35 years
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name pre n RNA processing factor 8 homolog
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     four nonsense mutations and one missense mutation found in distinct Spanish patients
    Remark(s)
  • mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing (PMID: 21378395))
  • mutations in pre-mRNA processing factor PRPF78 cause dysfunction of the retinal pigment epithelium (PMID: 25111227))