title: Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.
abstract: Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best vitelliform macular dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluorescence, qAF) as an indirect measure of RPE lipofuscin levels. Mean non-lesion qAF was found to be within normal limits for age. By spectral domain optical coherence tomography (SD-OCT) vitelliform lesions presented as fluid-filled subretinal detachments containing reflective material. We discuss photoreceptor outer segment debris as the source of the intense fluorescence of these lesions and loss of anion channel functioning as an explanation for the bullous photoreceptor-RPE detachment. Unexplained is the propensity of the disease for central retina.
authors.affiliation: Department of Ophthalmology, Harkness Eye Institute, Columbia University Medical Center, 635 W. 165th Street, 10032, New York, NY, USA. jrs88@cumc.columbia.edu.|Department of Pathology and Cell Biology, Columbia University Medical Center, 635 W. 165th Street, 10032, New York, NY, USA. jrs88@cumc.columbia.edu.
authors.forename: Janet R
authors.initials: JR
authors.lastname: Sparrow
authors.affiliation: Department of Ophthalmology, Harkness Eye Institute, Columbia University Medical Center, 635 W. 165th Street, 10032, New York, NY, USA. tobias.duncker@gmail.com.
authors.forename: Tobias
authors.initials: T
authors.lastname: Duncker
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Schepens Eye Research Institute, 02114, Boston, MA, USA. russell_woods@meei.harvard.edu.
authors.forename: Russell
authors.initials: R
authors.lastname: Woods
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Schepens Eye Research Institute, 02114, Boston, MA, USA. Francois_delori@meei.harvard.edu.
authors.forename: François C
authors.initials: FC
authors.lastname: Delori
mesh_terms: D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D005453:Fluorescence; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008062:Lipofuscin / Q000737:chemistry* / Q000378:metabolism; D018613:Microscopy, Confocal / Q000379:methods; D009154:Mutation; D009887:Ophthalmoscopy / Q000379:methods; D055213:Retinal Pigment Epithelium / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D041623:Tomography, Optical Coherence / Q000379:methods; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D008062:Lipofuscin
keywords: BEST1; Best vitelliform macular dystrophy; Fundus autofluorescence; Quantitative autofluorescence; SD-OCT