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New Stargardt Disease Findings from Stanford University Described (Multimodal Imaging And Multifocal Electroretinography Demonstrate Autosomal...

September 12, 2014



New Stargardt Disease Findings from Stanford University Described (Multimodal Imaging And Multifocal Electroretinography Demonstrate Autosomal Recessive Stargardt Disease May Present Like Occult Macular Dystrophy)

By a News Reporter-Staff News Editor at Health & Medicine Week -- Investigators publish new report on Stargardt Disease. According to news reporting from Palo Alto, California, by NewsRx journalists, research stated, "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. Retrospective, observational descriptive case series."

The news correspondents obtained a quote from the research from Stanford University, "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. 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."

According to the news reporters, the research concluded: "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."

For more information on this research see: Multimodal Imaging And Multifocal Electroretinography Demonstrate Autosomal Recessive Stargardt Disease May Present Like Occult Macular Dystrophy. Retina-The Journal of Retinal and Vitreous Diseases, 2014;34(8):1567-1575. Retina-The Journal of Retinal and Vitreous Diseases can be contacted at: Lippincott Williams & Wilkins, 530 Walnut St, Philadelphia, PA 19106-3621, USA (see also Stargardt Disease).

Our news journalists report that additional information may be obtained by contacting R.A. Sisk, Stanford University, Sch Med, Byers Eye Inst, Palo Alto, CA 94304, United States.

Keywords for this news article include: Palo Alto, California, United States, North and Central America, Biological Pigments, Imaging Technology, Lipofuscin, Macular Degeneration, Optical Coherence Tomography, Stargardt Disease

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2014, NewsRx LLC


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Source: Health & Medicine Week


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