RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy

Ophthalmol Retina. 2019 Jun;3(6):535. doi: 10.1016/j.oret.2019.02.008.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Choroid / pathology
  • Cone Dystrophy / diagnosis
  • Cone Dystrophy / genetics*
  • Cone Dystrophy / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Dark Adaptation
  • Electroretinography
  • Female
  • Fluorescein Angiography / methods
  • Fundus Oculi
  • Humans
  • Mutation*
  • Retinal Cone Photoreceptor Cells / metabolism
  • Retinal Cone Photoreceptor Cells / pathology*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Retinal Diseases / metabolism
  • Tomography, Optical Coherence / methods*
  • Young Adult
  • cis-trans-Isomerases / genetics*
  • cis-trans-Isomerases / metabolism

Substances

  • DNA
  • retinoid isomerohydrolase
  • cis-trans-Isomerases

Supplementary concepts

  • Fundus Albipunctatus