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
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
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ATP-Binding Cassette Transporters / genetics
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Adult
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Basement Membrane / pathology*
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Child, Preschool
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Female
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Humans
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Macular Degeneration / congenital*
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Macular Degeneration / diagnosis
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Macular Degeneration / genetics
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Pedigree
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Photoreceptor Cells, Vertebrate / pathology
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Retinal Pigment Epithelium / pathology
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Stargardt Disease
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Tomography, Optical Coherence
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Visual Acuity / physiology
Substances
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ABCA4 protein, human
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ATP-Binding Cassette Transporters