Macular Dystrophies Mimicking Age-Related Macular Degeneration
Progress in Retinal and Eye Research 39 (2014) 23e57 Contents lists available at ScienceDirect Progress in Retinal and Eye Research journal homepage: www.elsevier.com/locate/prer Macular dystrophies mimicking age-related macular degeneration Nicole T.M. Saksens a,1,2,7, Monika Fleckenstein b,1,3,7, Steffen Schmitz-Valckenberg b,4,7, Frank G. Holz b,3,7, Anneke I. den Hollander a,5,7, Jan E.E. Keunen a,5,7, Camiel J.F. Boon a,c,d,5,6,7, Carel B. Hoyng a,*,7 a Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands b Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany c Oxford Eye Hospital and Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, West Wing, Headley Way, Oxford OX3 9DU, United Kingdom d Department of Ophthalmology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands article info abstract Article history: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly Available online 28 November 2013 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 Keywords: presentation, it can be challenging to distinguish AMD from several macular diseases that can mimic the Age-related macular degeneration features of AMD. This clinical overlap may potentially lead to misdiagnosis. In this review, we discuss the AMD characteristics of AMD and the macular dystrophies that can mimic AMD. The appropriate use of clinical Macular dystrophy and genetic analysis can aid the clinician to establish the correct diagnosis, and to provide the patient Differential diagnosis Retina with the appropriate prognostic information.
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