title: Abnormality in the external limiting membrane in early Stargardt disease.
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.
authors.affiliation: Department of Ophthalmology, Columbia University, New York, NY, USA. tomasburke@hotmail.com
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Burke
authors.forename: Suzanne
authors.initials: S
authors.lastname: Yzer
authors.forename: Jana
authors.initials: J
authors.lastname: Zernant
authors.forename: R Theodore
authors.initials: RT
authors.lastname: Smith
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000328:Adult; D001485:Basement Membrane / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters