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.

KEYWORDS::

• Stargardt Disease
• ABCA4
• External limiting membrane

ACKNOWLEDGMENTS

The authors wish to acknowledge Dr Joseph Carroll for providing the images of the controls, as well as for insightful comments on the case. We also wish to acknowledge Dr Stanley Chang and Canon (Tokyo, Japan) for the use of the CX-1 Digital Retinal Camera.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. This research was supported by The Eye Surgery Fund; National Eye Institute Grants EY-018213, EY-015520, EY-021163, EY-019861, EY-13435, and EY-019007 (Core Support for Vision Research), unrestricted funds from Research to Prevent Blindness (New York, NY); the Foundation Fighting Blindness (Owings Mills, Maryland); New York State Grant N09G-302; United States Department of Defense Grant TS080017; the Schneeweiss Stargardt Fund; and The Starr Foundation.