Sjögren-larsson syndrome and crystalline maculopathy associated with a novel mutation

Arch Ophthalmol. 2007 Nov;125(11):1582-3. doi: 10.1001/archopht.125.11.1582.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aldehyde Oxidoreductases / genetics*
  • Crystallization
  • DNA Mutational Analysis
  • Fluorescein Angiography
  • Humans
  • Male
  • Mutation*
  • Polymerase Chain Reaction
  • Retinal Diseases / genetics*
  • Sjogren-Larsson Syndrome / genetics*
  • Tomography, Optical Coherence

Substances

  • Aldehyde Oxidoreductases
  • long-chain-aldehyde dehydrogenase