title: Phenotypic heterogeneity and lesion size measurements in Stargardt macular dystrophy.
abstract: Fundus autofluorescence has been used in Stargardt macular dystrophy and fundus flavimaculatus to better understand disease status and progression. Fundus autofluorescence images delineate atrophic regions with great clarity and high contrast. The authors investigated whether fundus autofluorescence images revealed more atrophy than color fundus photographs by studying a family of three siblings with long-standing disease that demonstrated a heterogeneous fundus appearance. Findings on fundus autofluorescence were compared with color fundus photographs and fluorescein images. Optical coherence tomography images were also analyzed. Areas of atrophic lesions were measured and compared on fundus autofluorescence and color fundus photographs. Autofluorescence images delineated atrophic regions more clearly than color fundus photographs. However, the measured areas of atrophy were only modestly larger in fundus autofluorescence images than in color fundus photographs. The optical coherence tomography images showed severe outer retinal atrophy and loss of foveal contour.
authors.affiliation: The Eye Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
authors.forename: Sandeep N
authors.initials: SN
authors.lastname: Shah
authors.forename: Dara D
authors.initials: DD
authors.lastname: Koozekanani
authors.forename: Judy E
authors.initials: JE
authors.lastname: Kim
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism; D000328:Adult; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D018740:Genetic Heterogeneity; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D010641:Phenotype; D012374:Rod Cell Outer Segment; D035781:Siblings; D041623:Tomography, Optical Coherence
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D004247:DNA