Abnormality in the external limiting membrane in early Stargardt disease

Tomas R Burke, Suzanne Yzer, Jana Zernant, R Theodore Smith, Stephen H Tsang, Rando Allikmets

Research output: Contribution to journalArticleResearchpeer-review

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.

Original languageEnglish
Pages (from-to)75-7
Number of pages3
JournalOphthalmic Genetics
Volume34
Issue number1-2
DOIs
Publication statusPublished - Mar 2013

Keywords

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

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