Pattern dystrophy in a female carrier of RP2 mutation

Ophthalmic Genet. 2016 Dec;37(4):453-455. doi: 10.3109/13816810.2015.1081253. Epub 2016 Feb 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Exons / genetics
  • Eye Proteins / genetics*
  • Female
  • GTP-Binding Proteins
  • Heterozygote
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Tomography, Optical Coherence

Substances

  • Eye Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • RP2 protein, human
  • GTP-Binding Proteins