Stargardt-Fundus flavimaculatus: recent advancements and treatment

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):372-6. doi: 10.3109/08820538.2013.825286.

Abstract

Stargardt disease is the most common form of autosomal recessive macular dystrophy. Mutation in the ABCA4 gene (ABCR protein) is responsible for disease manifestation in more than 95% of Stargardt patients. ABCA4 codes for a member of the ATP binding cassette transmembrane protein involved in the transport of all-trans retinal. Dysfunction in this protein causes accumulation of lipofuscin, which is toxic to the RPE and photoreceptors. Presenting symptoms, fundus appearance, and progression of the disease are widely variable in this disease. Different imaging modalities have been utilized to study the presentation and evolution of fundus changes. Although there is ongoing research to better understand the disease process and ways to alternate its path, currently there is no treatment for Startgardt patients.

Publication types

  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Diagnostic Imaging
  • Disease Progression
  • Humans
  • Macular Degeneration / congenital*
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / therapy
  • Stargardt Disease

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Stargardt disease 1