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Advances on Retinal Diseases: 2nd Edition

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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

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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

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Related Special Issue

Published Papers (4 papers)

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Research

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17 pages, 2360 KiB  
Article
AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma
by Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, Laura K. Finnegan, Ethan Bargroff, Iris J. M. Post, John Maguire, Mustapha Irnaten, Colm O′Brien, Paul F. Kenna, Naomi Chadderton and G. Jane Farrar
Int. J. Mol. Sci. 2024, 25(16), 8876; https://doi.org/10.3390/ijms25168876 - 15 Aug 2024
Viewed by 487
Abstract
Glaucoma, a leading cause of blindness, is a multifactorial condition that leads to progressive loss of retinal ganglion cells (RGCs) and vision. Therapeutic interventions based on reducing ocular hypertension are not always successful. Emerging features of glaucoma include mitochondrial dysfunction and oxidative stress. [...] Read more.
Glaucoma, a leading cause of blindness, is a multifactorial condition that leads to progressive loss of retinal ganglion cells (RGCs) and vision. Therapeutic interventions based on reducing ocular hypertension are not always successful. Emerging features of glaucoma include mitochondrial dysfunction and oxidative stress. In the current study, NDI1-based gene therapy, which improves mitochondrial function and reduces reactive oxygen species, was delivered intraocularly via an adeno-associated viral vector (AAV). This AAV-NDI1 therapy protected RGCs from cell death in treated (1552.4 ± 994.0 RGCs/mm2) versus control eyes (1184.4 ± 978.4 RGCs/mm2, p < 0.05) in aged DBA/2J mice, a murine model of glaucoma. The photonegative responses (PhNRs) of RGCs were also improved in treated (6.4 ± 3.3 µV) versus control eyes (5.0 ± 3.1 µV, p < 0.05) in these mice. AAV-NDI1 also provided benefits in glaucomatous human lamina cribrosa (LC) cells by significantly increasing basal and maximal oxygen consumption rates and ATP production in these cells. Similarly, NDI1 therapy significantly protected H2O2-insulted primary porcine LC cells from oxidative stress. This study highlights the potential utility of NDI1 therapies and the benefits of improving mitochondrial function in the treatment of glaucoma. Full article
(This article belongs to the Special Issue Advances on Retinal Diseases: 2nd Edition)
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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
Cited by 1 | Viewed by 715
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: 2nd Edition)

Review

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20 pages, 2473 KiB  
Review
Natural Products in the Treatment of Retinopathy of Prematurity: Exploring Therapeutic Potentials
by Jong-Ik Heo and Juhee Ryu
Int. J. Mol. Sci. 2024, 25(15), 8461; https://doi.org/10.3390/ijms25158461 - 2 Aug 2024
Viewed by 573
Abstract
Retinopathy of prematurity (ROP) is a vascular disorder affecting the retinas of preterm infants. This condition arises when preterm infants in incubators are exposed to high oxygen levels, leading to oxidative stress, inflammatory responses, and a downregulation of vascular endothelial growth factors, which [...] Read more.
Retinopathy of prematurity (ROP) is a vascular disorder affecting the retinas of preterm infants. This condition arises when preterm infants in incubators are exposed to high oxygen levels, leading to oxidative stress, inflammatory responses, and a downregulation of vascular endothelial growth factors, which causes the loss of retinal microvascular capillaries. Upon returning to room air, the upregulation of vascular growth factors results in abnormal vascular growth of retinal endothelial cells. Without appropriate intervention, ROP can progress to blindness. The prevalence of ROP has risen, making it a significant cause of childhood blindness. Current treatments, such as laser therapy and various pharmacologic approaches, are limited by their potential for severe adverse effects. Therefore, a deeper understanding of ROP’s pathophysiology and the development of innovative treatments are imperative. Natural products from plants, fungi, bacteria, and marine organisms have shown promise in treating various diseases and have gained attention in ROP research due to their minimal side effects and wide-ranging beneficial properties. This review discusses the roles and mechanisms of natural products that hold potential as therapeutic agents in ROP management. Full article
(This article belongs to the Special Issue Advances on Retinal Diseases: 2nd Edition)
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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 744
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: 2nd Edition)
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