Special Issue "Age-Related Macular Disease"


A special issue of Journal of Clinical Medicine (ISSN 2077-0383).

Deadline for manuscript submissions: closed (31 August 2014)

Special Issue Editors

Guest Editor
Prof. Dr. Lindsay Farrer
Division of Biomedical Genetics E200, Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, MA 02118, USA
Website: http://www.bu.edu/genetics-people/faculty/farrer
E-Mail: farrer@bu.edu
Phone: +1 617 638 5393
Fax: +1 617 638 4275
Interests: age-related macular degeneration; Alzheimer disease; substance dependence; genetic epidemiology; gene mapping; genotype-phenotype correlations; genomics; personalized medicine

Guest Editor
Dr. Margaret DeAngelis
Department of Ophthalmology and Visual Sciences, School of Medicine, University of Utah, Moran Eye Center, 65 Mario Capecchi Drive, Salt Lake City, UT 84132, USA
Website: http://www.moraneyecenter.org
E-Mail: margaret.deangelis@utah.edu
Phone: +801 213 4052
Fax: +801 581 5335
Interests: age-related macular degeneration; retinopathy of prematurity; diabetic retinopathy; myopia; genomics; epigenetics; gene expression; systems biology; precision medicine

Special Issue Information

Dear Colleagues,

Major advances have been made in our understanding of mechanisms leading to age-related macular degeneration (AMD) using genetic and genomic approaches. For example, genome wide significant associations of AMD with variants at 19 loci have been discovered. Most notably, CFH and ARMS2/HTRA1 have the largest influence on AMD risk. However, these variants, individually or together, are insufficient for accurately predicting disease onset, progression or response to treatment. Moreover, there is a gap in our knowledge concerning the functional significance of these genes and their variants in AMD pathophysiology.

Next generation sequencing technologies, including RNA-Seq, ChIP-Seq, BiSulfate Sequencing, Whole Genome Methylation, Whole Genome Sequencing, Whole Exome Sequencing, and other approaches, are expected to generate data to help bridge this gap in our knowledge. An improved understanding of mechanisms leading to AMD will provide crucial insights for devising new in vivo and in vitro models so that the most efficacious and least harmful therapeutics can be developed to treat this leading cause of blindness in the aging population.

Prof. Dr. Lindsay Farrer
Dr. Margaret DeAngelis
Guest Editors


Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed Open Access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. For the first couple of issues the Article Processing Charge (APC) will be waived for well-prepared manuscripts. English correction and/or formatting fees of 250 CHF (Swiss Francs) will be charged in certain cases for those articles accepted for publication that require extensive additional formatting and/or English corrections.


  • age-related macular degeneration
  • genomics
  • epigenetics
  • gene Expression
  • pathway analysis
  • biomarkers
  • proteomics

Published Papers (2 papers)

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p. 1302-1321
by  and
J. Clin. Med. 2014, 3(4), 1302-1321; doi:10.3390/jcm3041302
Received: 28 August 2014; in revised form: 4 November 2014 / Accepted: 6 November 2014 / Published: 17 November 2014
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(This article belongs to the Special Issue Age-Related Macular Disease)
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p. 1234-1257
by , ,  and
J. Clin. Med. 2014, 3(4), 1234-1257; doi:10.3390/jcm3041234
Received: 4 August 2014; in revised form: 20 October 2014 / Accepted: 22 October 2014 / Published: 3 November 2014
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Last update: 26 March 2014

J. Clin. Med. EISSN 2077-0383 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert