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Molecular Insight into Retinal Diseases

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: 30 June 2024 | Viewed by 6839

Special Issue Editors


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Guest Editor
1. Institute of Pharmacology, School of Medicine, National Yang-Ming University, Taipei 112, Taiwan
2. Department of Chinese Medicine, School of Chinese Medicine, China Medical University, Taichung 404, Taiwan
3. Oxford Eye Clinic, Taipei 112, Taiwan
Interests: neuroprotection in retinal ischemia; vitreoretinal surgery

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Guest Editor
1. Machine Learning Division, Ophthalmic Research Laboratory, University of Adelaide, Adelaide, SA 5005, Australia
2. Department of Ophthalmology, Royal Adelaide Hospital, Adelaide, SA 5000, Australia
Interests: glaucoma; retinal cell biology; neuroprotection; ophthalmic epidemiology; translational ophthalmic

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Guest Editor
1. Department of Ophthalmology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung 833, Taiwan
2. School of Medicine, Chang Gung University, Taoyuan 33302, Taiwan
Interests: uveitis; nonarteritic anterior ischemic optic neuropathy; vitreoretinal surgery

Special Issue Information

Dear Colleagues,

Retinal vascular occlusion, normal tension glaucoma, diabetic retinopathy and age-related macular degeneration (AMD) are related to retinal ischemia and vision threatening. The incidences of these diseases are 0.0018 % for central retinal artery occlusion (CRAO), 4 % for primary open angle glaucoma (in urban areas), 2.9 % for sight-threatening diabetic retinopathy (type 2 diabetes), and 0.36 % for AMD (age ≥40).

The aim of this Special Issue is to evaluate the protective effects and underlying mechanisms of complementary medicine or therapy against retinal ischemia. Recent advancements in the retina have been made in the following sub-topics: neuroprotection in retinal ischemia: anti-VEGF (faricimab), protectants (modified cerebrolysin), acupuncture, stem cells, gene therapy and retinal chips; femtosecond-assisted phacovitrectomy; artisan lenses in IOL dislocation; artiflex lenses in moderate myopia; exozymes in Harada dz with dry eye; silicon oil vs. scleral buckles in capsulotomized pseudopkakic inferior-break-induced inferior retinal detachment (RD). Macular surgery: amniotic membranes or ILM flaps in macular holes with or without RD; electrophysiological/pathological examination (EOG, multifocal ERG, flash ERG, VEP, microperimetry and OCT-A). Pure clinical studies will be not suitable for submission to International Journal of Molecular Sciences (IJMS). However, clinical or pure model submissions with biomolecular experiments are welcomed.

Prof. Dr. Hsiaoming Chao
Prof. Dr. Robert Casson
Dr. Hsi-Kung Kuo
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 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

  • faricimab
  • modified cerebrolysin
  • acupuncture
  • stem cells
  • gene therapy
  • retinal chip
  • femtosecond
  • artisan aphakia
  • artiflex
  • exozyme
  • silicon oil
  • amniotic membrane
  • EOG
  • multifocal ERG
  • flash ERG
  • VEP
  • microperimetry
  • OCT-A

Published Papers (6 papers)

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19 pages, 5316 KiB  
Article
Small-Molecule-Directed Endogenous Regeneration of Visual Function in a Mammalian Retinal Degeneration Model
by Daphna Mokady, Jason Charish, Patrick Barretto-Burns, Kenneth N. Grisé, Brenda L. K. Coles, Susanne Raab, Arturo Ortin-Martinez, Alex Müller, Bernhard Fasching, Payal Jain, Micha Drukker, Derek van der Kooy and Matthias Steger
Int. J. Mol. Sci. 2024, 25(3), 1521; https://doi.org/10.3390/ijms25031521 - 26 Jan 2024
Viewed by 2190
Abstract
Degenerative retinal diseases associated with photoreceptor loss are a leading cause of visual impairment worldwide, with limited treatment options. Phenotypic profiling coupled with medicinal chemistry were used to develop a small molecule with proliferative effects on retinal stem/progenitor cells, as assessed in vitro [...] Read more.
Degenerative retinal diseases associated with photoreceptor loss are a leading cause of visual impairment worldwide, with limited treatment options. Phenotypic profiling coupled with medicinal chemistry were used to develop a small molecule with proliferative effects on retinal stem/progenitor cells, as assessed in vitro in a neurosphere assay and in vivo by measuring Msx1-positive ciliary body cell proliferation. The compound was identified as having kinase inhibitory activity and was subjected to cellular pathway analysis in non-retinal human primary cell systems. When tested in a disease-relevant murine model of adult retinal degeneration (MNU-induced retinal degeneration), we observed that four repeat intravitreal injections of the compound improved the thickness of the outer nuclear layer along with the regeneration of the visual function, as measured with ERG, visual acuity, and contrast sensitivity tests. This serves as a proof of concept for the use of a small molecule to promote endogenous regeneration in the eye. Full article
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)
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11 pages, 2182 KiB  
Article
Identification of Genetic Variants for Risk Prediction and Early Diagnosis of Age-Related Macular Degeneration in the Taiwanese Population
by Yu-Chuen Huang, Wen-Ling Liao, Hui-Ju Lin, Yu-Te Huang, Ya-Wen Chang, Ting-Yuan Liu, Yu-Chia Chen, Angel L. Weng and Fuu-Jen Tsai
Int. J. Mol. Sci. 2024, 25(6), 3230; https://doi.org/10.3390/ijms25063230 - 12 Mar 2024
Viewed by 759
Abstract
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly worldwide. The prevalence and phenotypes of AMD differ among populations, including between people in Taiwan and other regions. We performed a genome-wide association study to identify genetic variants and to [...] Read more.
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly worldwide. The prevalence and phenotypes of AMD differ among populations, including between people in Taiwan and other regions. We performed a genome-wide association study to identify genetic variants and to develop genetic models to predict the risk of AMD development and progression in the Taiwanese population. In total, 4039 patients with AMD and 16,488 non-AMD controls (aged ≥ 65 years) were included. We identified 31 AMD-associated variants (p < 5 × 10−8) on chromosome 10q26, surrounding PLEKHA1-ARMS2-HTRA1. Two genetic models were constructed using the clump and threshold method. Model 1 included the single nucleotide polymorphism rs11200630 and showed a 1.31-fold increase in the risk of AMD per risk allele (95% confidence interval (CI) = 1.20–1.43, p < 0.001). In model 2, 1412 single-nucleotide polymorphisms were selected to construct a polygenic risk score (PRS). Individuals with the top 5% PRS had a 1.40-fold higher AMD risk compared with that of individuals with a PRS in the bottom quartile (95% CI = 1.04–1.89, p = 0.025). Moreover, the PRS in the upper quartile was related to a decreased age at AMD diagnosis by 0.62 years (95% CI = −1.15, −0.09, p = 0.023). Both genetic models provide useful predictive power for populations at high risk of AMD, affording a basis for identifying patients requiring close follow-up and early intervention. Full article
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)
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13 pages, 2019 KiB  
Article
The Effect of S-Allyl L-Cysteine on Retinal Ischemia: The Contributions of MCP-1 and PKM2 in the Underlying Medicinal Properties
by Windsor Wen-Jin Chao, Howard Wen-Haur Chao, Hung-Fu Lee and Hsiao-Ming Chao
Int. J. Mol. Sci. 2024, 25(2), 1349; https://doi.org/10.3390/ijms25021349 - 22 Jan 2024
Viewed by 907
Abstract
Retinal ischemia plays a vital role in vision-threatening retinal ischemic disorders, such as diabetic retinopathy, age-related macular degeneration, glaucoma, etc. The aim of this study was to investigate the effects of S-allyl L-cysteine (SAC) and its associated therapeutic mechanism. Oxidative stress was induced [...] Read more.
Retinal ischemia plays a vital role in vision-threatening retinal ischemic disorders, such as diabetic retinopathy, age-related macular degeneration, glaucoma, etc. The aim of this study was to investigate the effects of S-allyl L-cysteine (SAC) and its associated therapeutic mechanism. Oxidative stress was induced by administration of 500 μM H2O2 for 24 h; SAC demonstrated a dose-dependent neuroprotective effect with significant cell viability effects at 100 μM, and it concurrently downregulated angiogenesis factor PKM2 and inflammatory biomarker MCP-1. In a Wistar rat model of high intraocular pressure (HIOP)-induced retinal ischemia and reperfusion (I/R), post-administration of 100 μM SAC counteracted the ischemic-associated reduction of ERG b-wave amplitude and fluorogold-labeled RGC reduction. This study supports that SAC could protect against retinal ischemia through its anti-oxidative, anti-angiogenic, anti-inflammatory, and neuroprotective properties. Full article
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)
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13 pages, 1045 KiB  
Case Report
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report
by Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Benedict Rak and Biljana Kuzmanović Elabjer
Int. J. Mol. Sci. 2024, 25(12), 6442; https://doi.org/10.3390/ijms25126442 - 11 Jun 2024
Viewed by 152
Abstract
We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, [...] Read more.
We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, nystagmus, reduced pigmentation of the retina, and foveal hypoplasia. Genetic testing was performed. A heterozygous missense VUS CAPN5 c.230A>G, p.(Gln77Arg), a heterozygous missense VUS TYR c.1307G>C, p.(Gly436Ala), and a heterozygous missense variant TYR c.1205G>A, p.(Arg402Gln) which was classified as a risk factor, were identified. We hypothesized that the TYR c.1307G>C, p.(Gly436Ala) variant is in genetic disequilibrium with the TYR c.1205G>A, p.(Arg402Gln) variant leading to deficient expression of melanogenic enzymes in retinal cells, resulting in the manifestation of mild OCA. Additionally, this study represents the case where we did not detect chiasmal misrouting in visual evoked potentials, nor did we observe a shift in the distribution of ganglion cell thickness from a temporal to a central position. Moreover, our patient’s case supports the probable benign nature of the CAPN5 c.230A>G, p.(Gln77Arg) variant. Full article
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)
23 pages, 6962 KiB  
Article
Beneficial Effects of Fibroblast Growth Factor-1 on Retinal Pigment Epithelial Cells Exposed to High Glucose-Induced Damage: Alleviation of Oxidative Stress, Endoplasmic Reticulum Stress, and Enhancement of Autophagy
by Hsin-Wei Huang, Chung-May Yang and Chang-Hao Yang
Int. J. Mol. Sci. 2024, 25(6), 3192; https://doi.org/10.3390/ijms25063192 - 11 Mar 2024
Viewed by 947
Abstract
Diabetic retinopathy (DR) severely affects vision in individuals with diabetes. High glucose (HG) induces oxidative stress in retinal cells, a key contributor to DR development. Previous studies suggest that fibroblast growth factor-1 (FGF-1) can mitigate hyperglycemia and protect tissues from HG-induced damage. However, [...] Read more.
Diabetic retinopathy (DR) severely affects vision in individuals with diabetes. High glucose (HG) induces oxidative stress in retinal cells, a key contributor to DR development. Previous studies suggest that fibroblast growth factor-1 (FGF-1) can mitigate hyperglycemia and protect tissues from HG-induced damage. However, the specific effects and mechanisms of FGF-1 on DR remain unclear. In our study, FGF-1-pretreated adult retinal pigment epithelial (ARPE)-19 cells were employed to investigate. Results indicate that FGF-1 significantly attenuated HG-induced oxidative stress, including reactive oxygen species, DNA damage, protein carbonyl content, and lipid peroxidation. FGF-1 also modulated the expression of oxidative and antioxidative enzymes. Mechanistic investigations showed that HG induced high endoplasmic reticulum (ER) stress and upregulated specific proteins associated with apoptosis. FGF-1 effectively alleviated ER stress, reduced apoptosis, and restored autophagy through the adenosine monophosphate-activated protein kinase/mammalian target of the rapamycin signaling pathway. We observed that the changes induced by HG were dose-dependently reversed by FGF-1. Higher concentrations of FGF-1 (5 and 10 ng/mL) exhibited increased effectiveness in mitigating HG-induced damage, reaching statistical significance (p < 0.05). In conclusion, our study underscores the promising potential of FGF-1 as a safeguard against DR. FGF-1 emerges as a formidable intervention, attenuating oxidative stress, ER stress, and apoptosis, while concurrently promoting autophagy. This multifaceted impact positions FGF-1 as a compelling candidate for alleviating retinal cell damage in the complex pathogenesis of DR. Full article
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)
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26 pages, 12463 KiB  
Article
CD40 Ligand–CD40 Interaction Is an Intermediary between Inflammation and Angiogenesis in Proliferative Diabetic Retinopathy
by Ahmed M. Abu El-Asrar, Mohd I. Nawaz, Ajmal Ahmad, Luna Dillemans, Mairaj Siddiquei, Eef Allegaert, Priscilla W. Gikandi, Gert De Hertogh, Ghislain Opdenakker and Sofie Struyf
Int. J. Mol. Sci. 2023, 24(21), 15582; https://doi.org/10.3390/ijms242115582 - 25 Oct 2023
Cited by 3 | Viewed by 1237
Abstract
We aimed to investigate the role of the CD40-CD40 ligand (CD40L) pathway in inflammation-mediated angiogenesis in proliferative diabetic retinopathy (PDR). We analyzed vitreous fluids and epiretinal fibrovascular membranes from PDR and nondiabetic patients, cultures of human retinal microvascular endothelial cells (HRMECs) and Müller [...] Read more.
We aimed to investigate the role of the CD40-CD40 ligand (CD40L) pathway in inflammation-mediated angiogenesis in proliferative diabetic retinopathy (PDR). We analyzed vitreous fluids and epiretinal fibrovascular membranes from PDR and nondiabetic patients, cultures of human retinal microvascular endothelial cells (HRMECs) and Müller glial cells and rat retinas with ELISA, immunohistochemistry, flow cytometry and Western blot analysis. Functional tests included measurement of blood–retinal barrier breakdown, in vitro angiogenesis and assessment of monocyte-HRMEC adherence. CD40L and CD40 levels were significantly increased in PDR vitreous samples. We demonstrated CD40L and CD40 expression in vascular endothelial cells, leukocytes and myofibroblasts in epiretinal membranes. Intravitreal administration of soluble (s)CD40L in normal rats significantly increased retinal vascular permeability and induced significant upregulation of phospho-ERK1/2, VEGF, intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1). sCD40L induced upregulation of VEGF, MMP-9, MCP-1 and HMGB1 in cultured Müller cells and phospo-ERK1/2, p65 subunit of NF-ĸB, VCAM-1 and VEGF in cultured HRMECS. TNF-α induced significant upregulation of CD40 in HRMECs and Müller cells and VEGF induced significant upregulation of CD40 in HRMECs. sCD40L induced proliferation and migration of HRMECs. We provide experimental evidence supporting the involvement of the CD40L-CD40 pathway and how it regulates inflammatory angiogenesis in PDR. Full article
(This article belongs to the Special Issue Molecular Insight into Retinal Diseases)
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