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IJMS
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Advances on Retinal Diseases 2.0
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Advances on Retinal Diseases 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 November 2024 | Viewed by 1957

Special Issue Editor

Dr. Minzhong Yu

E-Mail Website
Guest Editor
Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA
Interests: genesis and molecular mechanism of therapies in ocular diseases; clinical trials of different therapies in ocular disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Aging, drug side effects, immune system disorders, and genetic mutations affect the cells and tissues of the retina and optic nerve, which often cause poor vision and lead to poor quality of life. For the diagnosis and treatment of those disorders, the mechanisms underlying the development of those disorders should be further investigated.

In this Special Issue, we welcome researchers and clinicians to contribute with original research and review articles describing their in vitro and/or in vivo data, as well as clinical studies, to address the mechanisms by which genetic factors and protein molecules regulate ocular disorders, as well as novel diagnostic technologies and therapies for those diseases. The following topics are particularly welcome:

  • The potential effect of genetic mutations, aging, and drug side effects on eye diseases, including studies on novel mutations/biomarkers and signaling pathways.
  • Novel technologies, such as electrophysiology, spectral domain optical coherence tomography, optical coherence tomography angiography, artificial intelligence, clinical molecular genetic tests, etc., for the diagnosis and monitoring of those eye diseases in the aspects of functional, morphological, and molecular characterization.
  • Therapeutic interventions for eye diseases, including drug, surgery, stem cell, cell, and gene therapies.

Key points: Our journal IJMS provides an advanced forum for molecular studies in biology and chemistry, with a strong emphasis on molecular biology and molecular medicine. Thus, pure clinical studies will not be suitable for our journal. However, clinical or pure model submissions with biomolecular experiments are welcomed.

Dr. Minzhong Yu
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 submissions that pass pre-check are 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.

Keywords

  • retina
  • optic nerve
  • ocular disorder
  • retinal disease
  • genetic mutation
  • aging
  • drug side effects
  • novel mutations/biomarkers
  • signaling pathways
  • spectral domain optical coherence tomography
  • stem cell
  • gene therapy

Related Special Issue

Published Papers (2 papers)

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Research

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16 pages, 288 KiB  
Article
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
by Jordi Maggi, Samuel Koller, Silke Feil, Ruxandra Bachmann-Gagescu, Christina Gerth-Kahlert and Wolfgang Berger
Int. J. Mol. Sci. 2024, 25(12), 6540; https://doi.org/10.3390/ijms25126540 - 13 Jun 2024
Viewed by 558
Abstract
The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal diseases (IRDs) who remained undiagnosed after whole exome sequencing (WES). WGS was performed for index patients in 66 families. The datasets [...] Read more.
The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal diseases (IRDs) who remained undiagnosed after whole exome sequencing (WES). WGS was performed for index patients in 66 families. The datasets were analyzed according to GATK’s guidelines. Additionally, DeepVariant was complemented by GATK’s workflow, and a novel structural variant pipeline was developed. Overall, a molecular diagnosis was established in 19/66 (28.8%) index patients. Pathogenic deletions and one deep-intronic variant contributed to the diagnostic yield in 4/19 and 1/19 index patients, respectively. The remaining diagnoses (14/19) were attributed to exonic variants that were missed during WES analysis due to bioinformatic limitations, newly described loci, or unclear pathogenicity. The added diagnostic value of WGS equals 5/66 (9.6%) for our cohort, which is comparable to previous studies. This figure would decrease further to 1/66 (1.5%) with a standardized and reliable copy number variant workflow during WES analysis. Given the higher costs and limited added value, the implementation of WGS as a first-tier assay for inherited eye disorders in a diagnostic laboratory remains untimely. Instead, progress in bioinformatic tools and communication between diagnostic and clinical teams have the potential to ameliorate diagnostic yields. Full article
(This article belongs to the Special Issue Advances on Retinal Diseases 2.0)

Review

Jump to: Research

18 pages, 1121 KiB  
Review
Metabolic Regulation of Endothelial Cells: A New Era for Treating Wet Age-Related Macular Degeneration
by Xirui Chen, Yang Xu, Yahan Ju and Ping Gu
Int. J. Mol. Sci. 2024, 25(11), 5926; https://doi.org/10.3390/ijms25115926 - 29 May 2024
Viewed by 566
Abstract
Wet age-related macular degeneration (wet AMD) is a primary contributor to visual impairment and severe vision loss globally, but the prevailing treatments are often unsatisfactory. The development of conventional treatment strategies has largely been based on the understanding that the angiogenic switch of [...] Read more.
Wet age-related macular degeneration (wet AMD) is a primary contributor to visual impairment and severe vision loss globally, but the prevailing treatments are often unsatisfactory. The development of conventional treatment strategies has largely been based on the understanding that the angiogenic switch of endothelial cells (ECs) is mainly dictated by angiogenic growth factors. Even though treatments targeting vascular endothelial growth factor (VEGF), like ranibizumab, are widely administered, more than half of patients still exhibit inadequate or null responses, suggesting the involvement of other pathogenic mechanisms. With advances in research in recent years, it has become well recognized that EC metabolic regulation plays an active rather than merely passive responsive role in angiogenesis. Disturbances of these metabolic pathways may lead to excessive neovascularization in angiogenic diseases such as wet AMD, therefore targeted modulation of EC metabolism represents a promising therapeutic strategy for wet AMD. In this review, we comprehensively discuss the potential applications of EC metabolic regulation in wet AMD treatment from multiple perspectives, including the involvement of ECs in wet AMD pathogenesis, the major endothelial metabolic pathways, and novel therapeutic approaches targeting metabolism for wet AMD. Full article
(This article belongs to the Special Issue Advances on Retinal Diseases 2.0)
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