Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype

Acta Ophthalmol. 2014 Jun;92(4):e331-2. doi: 10.1111/aos.12280. Epub 2014 Jan 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Fluorescein Angiography
  • Follow-Up Studies
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / physiopathology
  • Middle Aged
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Siblings
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity / physiology

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters