New insights into Stargardt disease with multimodal imaging

Ophthalmic Surg Lasers Imaging Retina. 2015 Feb;46(2):257-61. doi: 10.3928/23258160-20150213-09.

Abstract

A 20-year-old woman with bilateral mild blurring of vision presented with a bull's eye maculopathy and was diagnosed with Stargardt disease, confirmed with genetic testing. The authors present several novel multimodal imaging findings including multicolor and multi-spectral imaging that enhanced visualization of perifoveal flecks, fundus autofluorescence that revealed both perifoveal and perimacular rings of hyperautofluorescence, adaptive optics imaging that revealed unprecedented visualization of cones at the fovea due to decreased cone density, and spectral-domain optical coherence tomography that identified thickening and increased hyperreflectivity of the external limiting membrane as a possible transient biomarker of early Stargardt disease.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Macular Degeneration / physiopathology
  • Multimodal Imaging*
  • Polymorphism, Single Nucleotide
  • Retina / physiopathology
  • Scotoma / diagnosis
  • Scotoma / physiopathology
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology
  • Young Adult

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Stargardt disease 1