title: Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria.
authors.forename: Markus
authors.initials: M
authors.lastname: Ritter
authors.forename: Stefan
authors.initials: S
authors.lastname: Zotter
authors.forename: Wolfgang M
authors.initials: WM
authors.lastname: Schmidt
authors.forename: Reginald E
authors.initials: RE
authors.lastname: Bittner
authors.forename: Gabor G
authors.initials: GG
authors.lastname: Deak
authors.forename: Michael
authors.initials: M
authors.lastname: Pircher
authors.forename: Stefan
authors.initials: S
authors.lastname: Sacu
authors.forename: Christoph K
authors.initials: CK
authors.lastname: Hitzenberger
authors.forename: Ursula M
authors.initials: UM
authors.lastname: Schmidt-Erfurth
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D001317:Austria / Q000453:epidemiology; D002648:Child; D003430:Cross-Sectional Studies; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods*; D005584:Fovea Centralis / Q000473:pathology*; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009887:Ophthalmoscopy; D010641:Phenotype; D015995:Prevalence; D011446:Prospective Studies; D055213:Retinal Pigment Epithelium / Q000473:pathology* / Q000503:physiopathology; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: image analysis; optical coherence tomography; retinal dystrophy