Macular dystrophies mimicking age-related macular degeneration

Nicole T M Saksens; Monika Fleckenstein; Steffen Schmitz-Valckenberg; Frank G Holz; Anneke I den Hollander; Jan E E Keunen; Camiel J F Boon; Carel B Hoyng

doi:10.1016/j.preteyeres.2013.11.001

Macular dystrophies mimicking age-related macular degeneration

Prog Retin Eye Res. 2014 Mar:39:23-57. doi: 10.1016/j.preteyeres.2013.11.001. Epub 2013 Nov 28.

Authors

Nicole T M Saksens¹, Monika Fleckenstein², Steffen Schmitz-Valckenberg³, Frank G Holz⁴, Anneke I den Hollander⁵, Jan E E Keunen⁶, Camiel J F Boon⁷, Carel B Hoyng⁸

Affiliations

¹ Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Nicole.Saksens@radboudumc.nl.
² Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany. Electronic address: Monika.Fleckenstein@ukb.uni-bonn.de.
³ Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany. Electronic address: Steffen.Schmitz-Valckenberg@ukb.uni-bonn.de.
⁴ Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany. Electronic address: frank.holz@ukb.uni-bonn.de.
⁵ Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Anneke.denHollander@radboudumc.nl.
⁶ Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Jan.Keunen@radboudumc.nl.
⁷ 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.
⁸ Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands. Electronic address: Carel.Hoyng@radboudumc.nl.

PMID: 24291520
DOI: 10.1016/j.preteyeres.2013.11.001

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.

Keywords: AMD; Age-related macular degeneration; Clinical characteristics; Differential diagnosis; Macular dystrophy; Retina.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Diagnosis, Differential
Humans
Macular Degeneration / diagnosis*
Macular Degeneration / genetics
Retinal Diseases / diagnosis
Retinal Diseases / genetics