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MULTIMODAL IMAGING AND MULTIFOCAL ELECTRORETINOGRAPHY DEMONSTRATE AUTOSOMAL RECESSIVE STARGARDT DISEASE MAY PRESENT LIKE OCCULT MACULAR DYSTROPHY

Sisk, Robert A. MD*,†,‡; Leng, Theodore MD§

doi: 10.1097/IAE.0000000000000136
Original Study

Purpose: To describe multimodal imaging and electrophysiologic characteristics of an unusual subset of patients with genetically confirmed autosomal recessive Stargardt disease (STGD1) who exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities.

Methods: Retrospective, observational descriptive case series.

Results: Five patients with compound heterozygous ABCA4 mutations presented with bilateral visual acuity reduction, normal-appearing fundi, and blocked choroidal fluorescence on fluorescein angiography. One sibling each of two probands with identical genotypes was also included for analysis. Full-field electroretinography testing was normal in all patients, but multifocal electroretinography demonstrated centripetally depressed amplitudes exceeding areas of fundus autofluorescence, infrared imaging, and spectral domain optical coherence tomography abnormalities. Spectral domain optical coherence tomography initially revealed disruption of the inner segment ellipsoid band accompanying an ovoid hypofluorescent foveolar lesion. Progression to later stages was accompanied by the loss of the foveal photoreceptor outer segments, creating foveal cavitation with preservation of the RPE. Fundus autofluorescence and infrared imaging demonstrated corresponding bull's eye lesions. Over time, the foveal potential space on spectral domain optical coherence tomography collapsed, and three patients developed RPE atrophy and visible lipofuscin flecks. The flecks were detectable by fundus autofluorescence and infrared imaging earlier than by biomicroscopy. From these findings, a staging system for this subset of Stargardt disease presenting with central cone dysfunction was developed and presented herein.

Conclusion: Autosomal recessive Stargardt disease may present as a central cone dysfunction syndrome before the development of lipofuscin flecks, atrophy of RPE, or full-field electroretinography abnormalities. If emerging therapies for Stargardt disease succeed, early recognition and treatment of patients with preserved foveal photoreceptor and RPE cell bodies may yield a more favorable visual prognosis.

Autosomal recessive Stargardt disease may present as a central cone dysfunction syndrome before the development of lipofuscin flecks, atrophy of retinal pigment epithelium, or full-field electroretinography abnormalities. If emerging therapies for Stargardt disease succeed, early recognition and treatment of patients with preserved foveal photoreceptor and RPE cell bodies may yield a more favorable visual prognosis.

*Cincinnati Eye Institute, Cincinnati, Ohio;

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;

Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio; and

§Byers Eye Institute, Stanford University School of Medicine, Palo Alto, California.

Reprint requests: Robert A. Sisk, MD, Cincinnati Eye Institute, 1945 CEI Drive, Cincinnati, OH 45242; e-mail: rsisk@cincinnatieye.com

Paper presented at the 2012 Association of Pediatric Retinal Surgeons Meeting, Park City, UT, September 23, 2012, and at the 46th Annual Retina Society Meeting, Beverly Hills, CA, September 23, 2013.

None of the authors have any financial/conflicting interests to disclose.

© 2014 by Ophthalmic Communications Society, Inc.