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Special Issue "Retinal Degeneration: Molecular Mechanism, Pathogenesis and Treatment"

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

Deadline for manuscript submissions: 15 March 2021.

Special Issue Editor

Prof. Valeria Marigo
Guest Editor
University of Modena and Reggio Emilia, Modena, Italy
Interests: retinitis pigmentosa; cell death mechanism; calcium; cGMP; neuroprotection

Special Issue Information

Dear Colleagues,

Degenerative diseases of the retina are characterized by the loss of photoreceptor cells and loss of vision. In the last thirty years, over 100 genes linked to inherited forms of these diseases have been identified, paving the way for multiple studies on the pathogenesis of these disorders. These studies underlined in retinal degeneration high genetic heterogeneity with autosomal dominant, recessive and X-linked inheritance, which hampers the development of a single treatment for such diseases. There have been extensive advances in our understanding of the mechanisms underlying photoreceptor demise. Some mechanisms are exclusive in specific forms of retinal degeneration but others appear to act as general responses in photoreceptors undergoing cell death. Studies on the identification of key molecules that can be targets for novel therapeutic intervention are under investigation. High enthusiasm arose with the first approval of an AAV-based gene therapy product for the treatment of LCA2 (Leber Congenital Amaurosis type 2), but such a specialized approach applies only to patients with recessive mutations in the RPE65 gene. Nevertheless, this recent success opened up new research topics for the development of novel biotechnological therapeutic molecules for inherited and non-inherited forms of retinal dystrophy based on either gene-specific or non-gene-specific approaches.

Contributions to this Special Issue should provide new insights into the pathogenesis of retinal degeneration, deepen our understanding of the molecular mechanisms activated in degenerating photoreceptors and discuss novel therapeutic opportunities based on gene supplementation therapy, RNA-based therapy and gene-independent neuroprotective approaches.

Prof. Valeria Marigo
Guest Editor

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.


  • retinitis pigmentosa
  • Leber Congenital Amaurosis
  • Stargardt disease
  • photoreceptor
  • mutant protein
  • cell death
  • therapy

Published Papers

This special issue is now open for submission.
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