Abnormality in the external limiting membrane in early Stargardt disease

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):75-7. doi: 10.3109/13816810.2012.707271. Epub 2012 Aug 7.

Abstract

Stargardt disease (STGD1) is caused by mutations in the ABCA4 gene. It has previously been reported that abnormalities in STGD1 may be detectable in the photoreceptors using spectral domain-optical coherence tomography (SD-OCT) prior to the detection of retinal pigment epithelium abnormalities. We present a 5-year-old asymptomatic girl with normal appearing fundi who possessed pathogenic ABCA4 variants on both chromosomes and where thickening of the external limiting membrane was the only abnormality detected on SD-OCT.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Adult
  • Basement Membrane / pathology*
  • Child, Preschool
  • Female
  • Humans
  • Macular Degeneration / congenital*
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics
  • Pedigree
  • Photoreceptor Cells, Vertebrate / pathology
  • Retinal Pigment Epithelium / pathology
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity / physiology

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Stargardt disease 1