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Special Issue "Genetics and Epigenetics of Eye Diseases"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 28 February 2022.

Special Issue Editors

Prof. Dr. Janusz Blasiak
E-Mail Website
Guest Editor
Faculty of Biology and Environmental Sciences, Department of Molecular Genetics, University of Lodz, Lodz, Poland
Interests: DNA and RNA structure; DNA damage and repair; DNA damage response; mutagenesis; cancer transformation; age-related macular degeneration; autophagy; mitochondrial quality control; mitophagy; miRNA-lncRNA regulation; gene regulation; epigenetics
Special Issues and Collections in MDPI journals
Prof. Dr. Kai Kaarniranta
E-Mail Website
Guest Editor
Department of Ophthalmology, University of Eastern Finland, 70211 Kuopio, Finland
Interests: Autophagy; Oxidative Stress; Inflammation; Lysosome; Retinal Pigment Epithelium; Reactive Oxygen Species; Lipid Peroxidation; Age-related Macular Degeneration
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Everything lies in genes or rather their expression, which is regulated genetically (transcription factors and other functional and structural proteins) and epigenetically (DNA methylation, histone modifications, non-coding RNAs). Deregulated gene expression is at the very heart of many human pathologies. Most human eye diseases are complex disorders, whose pathogenesis is underlined by an interplay between genetic/epigenetic, environmental, and life-style factors. The aim of this Special Issue is to shed some light on molecular aspects on this interplay. Therefore, all manuscripts, including clinical reports, experimental works and reviews as well as meta-analyses, reporting associations between eye disease phenotype and changes in the genome and epigenome are welcome. Because eye diseases in humans can be hardly studied in the target tissue, reports on experimental modeling of the involvement of genetic/epigenetic factors in their pathogenesis are also welcome.

Prof. Dr. Janusz Blasiak
Prof. Dr. Kai Kaarniranta
Guest Editors

Manuscript Submission Information

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. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short 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 thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Gene/genome expression
  • DNA damage/repair
  • DNA mutation/polymorphism
  • DNA methylation
  • Histone modifications
  • Non-coding RNAs

Published Papers (1 paper)

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Potential of Long Non-Coding RNAs in Age-Related Macular Degeneration
Int. J. Mol. Sci. 2021, 22(17), 9178; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22179178 - 25 Aug 2021
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Age-related macular degeneration (AMD) is the leading cause of visual impairment in the aging population with poorly known pathogenesis and lack of effective treatment. Age and family history are the strongest AMD risk factors, and several loci were identified to contribute to AMD. [...] Read more.
Age-related macular degeneration (AMD) is the leading cause of visual impairment in the aging population with poorly known pathogenesis and lack of effective treatment. Age and family history are the strongest AMD risk factors, and several loci were identified to contribute to AMD. Recently, also the epigenetic profile was associated with AMD, and some long non-coding RNAs (lncRNAs) were shown to involve in AMD pathogenesis. The Vax2os1/2 (ventral anterior homeobox 2 opposite strand isoform 1) lncRNAs may modulate the balance between pro- and anti-angiogenic factors in the eye contributing to wet AMD. The stress-induced dedifferentiation of retinal pigment epithelium cells can be inhibited by the ZNF503-AS1 (zinc finger protein 503 antisense RNA 2) and LINC00167 lncRNAs. Overexpression of the PWRN2 (Prader-Willi region non-protein-coding RNA 2) lncRNA aggravated RPE cells apoptosis and mitochondrial impairment induced by oxidative stress. Several other lncRNAs were reported to exert protective or detrimental effects in AMD. However, many studies are limited to an association between lncRNA and AMD in patients or model systems with bioinformatics. Therefore, further works on lncRNAs in AMD are rational, and they should be enriched with mechanistic and clinical studies to validate conclusions obtained in high-throughput in vitro research. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Eye Diseases)
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