title: Fundus autofluorescence imaging of retinal dystrophies.
abstract: Fundus autofluorescence (FAF) is a non-invasive imaging technique that enables the visualization of lipofuscin changes in the retinal pigment epithelium. This study aims to illustrate the spectrum of FAF changes in a variety of retinal dystrophies. For this purpose, we examined patients with retinal dystrophies such as Stargardt disease, Best vitelliform macular dystrophy, and retinal dystrophies associated with mutations in the peripherin/RDS gene. All retinal dystrophies were confirmed by molecular genetic analysis. A broad range of characteristic FAF patterns was observed. Our results indicate that FAF imaging constitutes a useful additive tool in the diagnosis and follow-up of various retinal dystrophies.
authors.affiliation: Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Philips van Leydenlaan 15, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Camiel J F
authors.initials: CJ
authors.lastname: Boon
authors.forename: B
authors.initials: B
authors.lastname: Jeroen Klevering
authors.forename: Jan E E
authors.initials: JE
authors.lastname: Keunen
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: Thomas
authors.initials: T
authors.lastname: Theelen
mesh_terms: D015862:Choroid Diseases / Q000175:diagnosis; D005453:Fluorescence; D005654:Fundus Oculi; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism; D008268:Macular Degeneration / Q000175:diagnosis; D018613:Microscopy, Confocal / Q000379:methods; D009887:Ophthalmoscopy / Q000379:methods; D012162:Retinal Degeneration / Q000175:diagnosis*; D055213:Retinal Pigment Epithelium / Q000378:metabolism
chemical_list: D008062:Lipofuscin