Diagnostic and Therapeutic Challenges

Retina. 2020 Apr;40(4):795-801. doi: 10.1097/IAE.0000000000002414.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy
  • Brain / diagnostic imaging
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Electroretinography / methods*
  • Humans
  • Laurence-Moon Syndrome / diagnosis*
  • Laurence-Moon Syndrome / genetics
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Phospholipases / genetics*
  • Phospholipases / metabolism
  • Retina / diagnostic imaging*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / etiology*
  • Tomography, Optical Coherence / methods

Substances

  • DNA
  • PNPLA6 protein, human
  • Phospholipases