title: Macular dystrophies mimicking age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly population in the Western world. AMD is a clinically heterogeneous disease presenting with drusen, pigmentary changes, geographic atrophy and/or choroidal neovascularization. Due to its heterogeneous presentation, it can be challenging to distinguish AMD from several macular diseases that can mimic the features of AMD. This clinical overlap may potentially lead to misdiagnosis. In this review, we discuss the characteristics of AMD and the macular dystrophies that can mimic AMD. The appropriate use of clinical and genetic analysis can aid the clinician to establish the correct diagnosis, and to provide the patient with the appropriate prognostic information. An overview is presented of overlapping and distinguishing clinical features.
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Nicole.Saksens@radboudumc.nl.
authors.forename: Nicole T M
authors.initials: NT
authors.lastname: Saksens
authors.affiliation: Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany. Electronic address: Monika.Fleckenstein@ukb.uni-bonn.de.
authors.forename: Monika
authors.initials: M
authors.lastname: Fleckenstein
authors.affiliation: Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany. Electronic address: Steffen.Schmitz-Valckenberg@ukb.uni-bonn.de.
authors.forename: Steffen
authors.initials: S
authors.lastname: Schmitz-Valckenberg
authors.affiliation: Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany. Electronic address: frank.holz@ukb.uni-bonn.de.
authors.forename: Frank G
authors.initials: FG
authors.lastname: Holz
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Anneke.denHollander@radboudumc.nl.
authors.forename: Anneke I
authors.initials: AI
authors.lastname: den Hollander
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Jan.Keunen@radboudumc.nl.
authors.forename: Jan E E
authors.initials: JE
authors.lastname: Keunen
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands; Oxford Eye Hospital and Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, West Wing, Headley Way, Oxford OX3 9DU, United Kingdom; Department of Ophthalmology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. Electronic address: Camiel.Boon@radboudumc.nl.
authors.forename: Camiel J F
authors.initials: CJ
authors.lastname: Boon
authors.affiliation: Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Carel.Hoyng@radboudumc.nl.
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics
keywords: AMD; Age-related macular degeneration; Clinical characteristics; Differential diagnosis; Macular dystrophy; Retina