Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype

J Neuroophthalmol. 2021 Sep 1;41(3):e290-e292. doi: 10.1097/WNO.0000000000001124.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cone-Rod Dystrophies / diagnosis
  • Cone-Rod Dystrophies / genetics*
  • Cone-Rod Dystrophies / metabolism
  • Female
  • Follow-Up Studies
  • Humans
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Mutation*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Optic Atrophy / metabolism
  • Phenotype
  • Retinal Ganglion Cells / pathology*
  • Rod Cell Outer Segment / pathology*
  • Time Factors
  • Tomography, Optical Coherence / methods
  • Visual Fields / physiology

Substances

  • Carrier Proteins
  • Mitochondrial Proteins
  • RTN4IP1 protein, human