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


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
Issue number1-2
Publication statusPublished - Mar 2013


  • 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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