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Advances in Retinal Diseases: 2nd Edition

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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 May 2025 | Viewed by 13643

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Special Issue Editor

Dr. Minzhong Yu

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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

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

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Related Special Issue

Advances on Retinal Diseases in International Journal of Molecular Sciences (9 articles)

Published Papers (7 papers)

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Research

Jump to: Review

19 pages, 4864 KiB

Open AccessArticle

Müller Glia Co-Regulate Barrier Permeability with Endothelial Cells in an Vitro Model of Hyperglycemia

by Juan S. Peña, François Berthiaume and Maribel Vazquez

Int. J. Mol. Sci. 2024, 25(22), 12271; https://doi.org/10.3390/ijms252212271 - 15 Nov 2024

Cited by 1 | Viewed by 2784

Abstract

Diabetic retinopathy is a complex, microvascular disease that impacts millions of working adults each year. High blood glucose levels from Diabetes Mellitus lead to the accumulation of advanced glycation end-products (AGEs), which promote inflammation and the breakdown of the inner blood retinal barrier (iBRB), resulting in vision loss. This study used an in vitro model of hyperglycemia to examine how endothelial cells (ECs) and Müller glia (MG) collectively regulate molecular transport. Changes in cell morphology, the expression of junctional proteins, and the reactive oxygen species (ROS) of ECs and MG were examined when exposed to a hyperglycemic medium containing AGEs. Trans-endothelial resistance (TEER) assays were used to measure the changes in cell barrier resistance in response to hyperglycemic and inflammatory conditions, with and without an anti-VEGF compound. Both of the cell types responded to hyperglycemic conditions with significant changes in the cell area and morphology, the ROS, and the expression of the junctional proteins ZO-1, CX-43, and CD40, as well as the receptor for AGEs. The resistivities of the individual and dual ECs and MG barriers decreased within the hyperglycemia model but were restored to that of basal, normoglycemic levels when treated with anti-VEGF. This study illustrated significant phenotypic responses to an in vitro model of hyperglycemia, as well as significant changes in the expression of the key proteins used for cell–cell communication. The results highlight important, synergistic relationships between the ECs and MG and how they contribute to changes in barrier function in combination with conventional treatments. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases: 2nd Edition)

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18 pages, 1541 KiB

Open AccessArticle

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease

by Claudia S. Priglinger, Maximilian J. Gerhardt, Siegfried G. Priglinger, Markus Schaumberger, Teresa M. Neuhann, Hanno J. Bolz, Yasmin Mehraein and Guenther Rudolph

Int. J. Mol. Sci. 2024, 25(22), 12259; https://doi.org/10.3390/ijms252212259 - 14 Nov 2024

Viewed by 991

Abstract

Inherited retinal dystrophies (IRDs) are a common cause of blindness or severe visual impairment in children and may occur with or without systemic associations. The aim of the present study is to describe the phenotypic and genotypic spectrum of IRDs in a pediatric patient cohort in Retrospective single-center cross-sectional analysis. Presenting symptoms, clinical phenotype, and molecular genetic diagnosis were assessed in 309 pediatric patients with suspected IRD. Patients were grouped by age at genetic diagnosis (preschool: 0–6 years, n = 127; schoolchildren: 7–17 years, n = 182). Preschool children most frequently presented with nystagmus (34.5% isolated, 16.4% syndromic), no visual interest (20.9%; 14.5%), or nyctalopia (22.4%; 3.6%; p < 0.05); schoolchildren most frequently presented with declining visual acuity (31% isolated, 21.1% syndromic), nyctalopia (10.6%; 13.5%), or high myopia (5.3%; 13.2%). Pathogenic variants were identified in 96 different genes (n = 69 preschool, n = 73 schoolchildren). In the preschool group, 57.4% had isolated and 42.6% had syndromic IRDs, compared to 70.9% and 29.1% in schoolchildren. In the preschool group, 32.4% of the isolated IRDs were related to forms of Leber’s congenital amaurosis (most frequent were RPE65 (11%) and CEP290 (8.2%)), 31.5% were related to stationary IRDs, 15.1% were related to macular dystrophies (ABCA4, BEST1, PRPH2, PROM1), and 8.2% to rod–cone dystrophies (RPGR, RPB3, RP2, PDE6A). All rod–cone dystrophies (RCDs) were subjectively asymptomatic at the time of genetic diagnosis. At schoolage, 41% were attributed to cone-dominated disease (34% ABCA4), 10.3% to BEST1, and 10.3% to RCDs (RP2, PRPF3, RPGR; IMPG2, PDE6B, CNGA1, MFRP, RP1). Ciliopathies were the most common syndromic IRDs (preschool 37%; schoolchildren 45.1%), with variants in USH2A, CEP290 (5.6% each), CDH23, BBS1, and BBS10 (3.7% each) being the most frequent in preschoolers, and USH2A (11.7%), BBS10 (7.8%), CEP290, CDHR23, CLRN1, and ICQB1 (3.9% each) being the most frequent in syndromic schoolkids. Vitreoretinal syndromic IRDs accounted for 29.6% (preschool: COL2A1, COL11A1, NDP (5.6% each)) and 23.5% (schoolage: COL2A1, KIF11 (9.8% each)), metabolic IRDs for 9.4% (OAT, HADHA, MMACHD, PMM2) and 3.9% (OAT, HADHA), mitochondriopathies for 3.7% and 7.8%, and syndromic albinism accounted for 5.6% and 3.9%, respectively. In conclusion we show here that the genotypic spectrum of IRDs and its quantitative distribution not only differs between children and adults but also between children of different age groups, with an almost equal proportion of syndromic and non-syndromic IRDs in early childhood. Ophthalmic screening visits at the preschool and school ages may aid even presymptomatic diagnosis and treatment of potential sight and life-threatening systemic sequelae. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases: 2nd Edition)

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17 pages, 2360 KiB

Open AccessArticle

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 3815

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. 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 in Retinal Diseases: 2nd Edition)

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16 pages, 288 KiB

Open AccessArticle

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 3 | Viewed by 1262

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 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 in Retinal Diseases: 2nd Edition)

Review

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36 pages, 10348 KiB

Open AccessReview

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes

by Minzhong Yu, Emile R. Vieta-Ferrer, Anas Bakdalieh and Travis Tsai

Int. J. Mol. Sci. 2025, 26(3), 957; https://doi.org/10.3390/ijms26030957 - 23 Jan 2025

Viewed by 449

Abstract

Visual electrophysiology is a valuable tool for evaluating the visual system in various systemic syndromes. This review highlights its clinical application in a selection of syndromes associated with hearing loss, mitochondrial dysfunction, obesity, and other multisystem disorders. Techniques such as full-field electroretinography (ffERG), multifocal electroretinography (mfERG), pattern electroretinography (PERG), visual evoked potentials (VEP), and electrooculography (EOG) offer insights into retinal and optic nerve function, often detecting abnormalities before clinical symptoms manifest. In hearing loss syndromes like Refsum disease, Usher syndrome (USH), and Wolfram syndrome (WS), electrophysiology facilitates the detection of early retinal changes that precede the onset of visual symptoms. For mitochondrial disorders such as maternally-inherited diabetes and deafness (MIDD), Kearns–Sayre syndrome (KSS), and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome, these tests can be useful in characterizing retinal degeneration and optic neuropathy. In obesity syndromes, including Bardet-Biedl syndrome (BBS), Alström syndrome, and Cohen syndrome, progressive retinal degeneration is a hallmark feature. Electrophysiological techniques aid in pinpointing retinal dysfunction and tracking disease progression. Other syndromes, such as Alagille syndrome (AGS), abetalipoproteinemia (ABL), Cockayne syndrome (CS), Joubert syndrome (JS), mucopolysaccharidosis (MPS), Neuronal ceroid lipofuscinoses (NCLs), and Senior–Løken syndrome (SLS), exhibit significant ocular involvement that can be evaluated using these methods. This review underscores the role of visual electrophysiology in diagnosing and monitoring visual system abnormalities across a range of syndromes, potentially offering valuable insights for early diagnosis, monitoring of progression, and management. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases: 2nd Edition)

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20 pages, 2473 KiB

Open AccessReview

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 1363

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 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 in Retinal Diseases: 2nd Edition)

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18 pages, 1121 KiB

Open AccessReview

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 1559

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 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 in Retinal Diseases: 2nd Edition)

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