Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene

Acta Ophthalmol. 2011 May;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Aged
  • Electroretinography
  • Exons / genetics
  • Fluorescein Angiography
  • Genotype
  • Humans
  • Macular Degeneration / congenital
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / physiopathology
  • Male
  • Phenotype
  • Point Mutation*
  • Polymorphism, Single Nucleotide
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity / physiology*
  • Visual Field Tests

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters