A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

Acta Ophthalmol. 2018 Jun;96(4):e535-e536. doi: 10.1111/aos.13629. Epub 2017 Nov 29.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Electrooculography
  • Electroretinography
  • Evoked Potentials, Visual
  • Genes, Recessive
  • Humans
  • Macular Edema / diagnostic imaging
  • Macular Edema / genetics*
  • Macular Edema / physiopathology
  • Male
  • Mutation*
  • Orphan Nuclear Receptors / genetics*
  • Oscillometry
  • Retinitis Pigmentosa / diagnostic imaging
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / physiopathology
  • Tomography, Optical Coherence
  • Visual Acuity

Substances

  • NR2E3 protein, human
  • Orphan Nuclear Receptors