NDLI: Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging.

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Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Deak, Gabor G. Ritter, Markus Schmidt-Erfurth, Ursula M. Schmidt, Wolfgang M. Hitzenberger, Christoph K. Bittner, Reginald E. Zotter, Stefan Pircher, Michael Sacu, Stefan
Spatial Coverage	Austria
Description	Country affiliation: Austria Author Affiliation: Ritter M ( Department of Ophthalmology, Medical University of Vienna, Vienna, Austria.)
Abstract	PURPOSE: To identify disease-specific changes in Stargardt disease (STGD) based on imaging with polarization-sensitive spectral-domain optical coherence tomography (PS-OCT) and to compare structural changes with those visible on blue light fundus autofluorescence (FAF) imaging. METHODS: Twenty-eight eyes of 14 patients diagnosed with STGD were imaged using a novel high-speed, large-field PS-OCT system and FAF (excitation 488 nm, emission > 500 nm). The ophthalmoscopic phenotype was classified into three groups. ABCA4 mutation testing detected 15 STGD alleles, six of which harbor novel mutations. RESULTS: STGD phenotype 1 (12 eyes) showed sharply delineated areas of absent RPE signal on RPE segmentation B-scans of PS-OCT correlating with areas of hypofluorescence on FAF. Adjacent areas of irregular fluorescence correlated with an irregular RPE segmentation line with absence of overlaying photoreceptor layers. Eyes characterized on OCT by a gap in the subfoveal outer segment layer (foveal cavitation) showed a normal RPE segmentation line on PS-OCT. Hyperfluorescent flecks on FAF in phenotype 2 STGD (8 eyes) were identified as clusters of depolarizing material at the level of the RPE. Distribution of flecks could be depicted on RPE elevation maps. An increased amount of depolarizing material in the choroid was characteristic for STGD Phenotype 3 (8 eyes). CONCLUSIONS: PS-OCT together with FAF identified characteristic patterns of changes in different stages of the disease. PS-OCT is a promising new tool for diagnosis and evaluation of future treatment modalities in STGD.
ISSN	01460404
e-ISSN	15525783
Journal	Investigative Opthalmology & Visual Science
Issue Number	9
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-09-27
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Fluorescein Angiography Fovea Centralis Pathology Macular Degeneration Diagnosis Retinal Pigment Epithelium Tomography, Optical Coherence Atp-binding Cassette Transporters Genetics Metabolism Adolescent Epidemiology Cross-sectional Studies Electroretinography Fundus Oculi Congenital Mutation Ophthalmoscopy Phenotype Prospective Studies Physiopathology Visual Acuity Comparative Study Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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