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Molecular Research in Retinal Degeneration
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Molecular Research in Retinal Degeneration

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: closed (20 April 2025) | Viewed by 10767

Special Issue Editors

Dr. Francisco J. Diaz Corrales

E-Mail Website
Guest Editor
Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Américo Vespucio 24, 41092 Seville, Spain
Interests: retinal degeneration; cell therapy; gene therapy; small molecules; retinitis pigmentosa; age-related macular degeneration
Special Issues, Collections and Topics in MDPI journals
Dr. Sandra Tenreiro

E-Mail Website
Guest Editor
iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS—FCM, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal
Interests: age-related diseases; cellular ageing; retinal degeneration; retinal organoids; proteostasis

Special Issue Information

Dear Colleagues,

I am pleased to announce this call for papers for the upcoming Special Issue in the International Journal of Molecular Sciences (IJMS) on “Molecular Research in Retinal Degeneration”. I have been appointed as the editor of this Special Issue, and I am excited to gather outstanding contributions in this important field.

Retinal degeneration is a vital research area that encompasses a variety of approaches, from clinical studies to basic and applied research. This Special Issue aims to bring together innovative and cutting-edge research that advances our understanding of the causes, mechanisms, and treatments of diseases affecting the retina.

I cordially invite all interested researchers to submit their contributions for consideration in this Special Issue. We welcome original articles, reviews, and brief communications addressing any aspect related to retinal degeneration, including but not limited to the following:

  • Molecular and cellular mechanisms involved in retinal degeneration.
  • Novel therapeutic strategies to prevent or treat retinal diseases.
  • Advances in diagnostic techniques and monitoring retinal degeneration.
  • Clinical studies evaluating the efficacy and safety of therapeutic interventions.
  • Future perspectives and challenges in retinal degeneration research.

Dr. Francisco J. Diaz Corrales
Dr. Sandra Tenreiro
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

  • retinal degeneration
  • gene therapy
  • gene editing
  • cell therapy
  • tissue engineering
  • small molecules
  • neuroprotection
  • dietary supplementation
  • optogenetics
  • retinal prosthesis implants

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Published Papers (6 papers)

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Research

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16 pages, 7151 KiB  
Article
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1
by Lucia Ziccardi, Lucilla Barbano, Mattia D’Andrea, Alessandro Bruselles, Carmen Dell’Aquila, Marcello Niceta, Cecilia Mancini, Alessandro Leone, Mattia Carvetta, Maria Albanese, Emilia Stellacci, Marco Tartaglia and Viviana Cordeddu
Int. J. Mol. Sci. 2025, 26(7), 3278; https://doi.org/10.3390/ijms26073278 - 1 Apr 2025
Viewed by 278
Abstract
O-mannosylation is a post-translational modification required for the proper function of various proteins and critical for development and growth. POMGNT1 encodes the enzyme O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, which catalyzes the second step in the synthesis of α-dystroglycan O-mannosyl glycans. Among POMGNT1-related α-dystroglycanopathies, muscle–eye–brain [...] Read more.
O-mannosylation is a post-translational modification required for the proper function of various proteins and critical for development and growth. POMGNT1 encodes the enzyme O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, which catalyzes the second step in the synthesis of α-dystroglycan O-mannosyl glycans. Among POMGNT1-related α-dystroglycanopathies, muscle–eye–brain (MEB) disease presents with congenital muscular dystrophy, structural brain abnormalities, and retinal dystrophy. Defects in protein O-mannosylation due to biallelic loss-of-function POMGNT1 mutations produce disturbances in assembling and organizing the basal membrane in the neuroretinal system, involving both the central and peripheral nervous systems. In the retina, POMGNT1 is expressed in photoreceptors and is localized near the photoreceptor cilium basal body, a structure critical for protein transport. Recent studies have reported an isolated degenerative ocular phenotype without any involvement of muscular or neuronal tissues. Here, we report on a family with three siblings affected by an apparently isolated clinically variable retinal disease and sharing biallelic inactivating POMGNT1 variants. Notably, the rod-cone dystrophy phenotype in the three siblings varied significantly in onset, presentation, and severity. These findings provide further evidence of the clinical variability associated with defective POMGNT1 function. Full article
(This article belongs to the Special Issue Molecular Research in Retinal Degeneration)
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27 pages, 12325 KiB  
Article
Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases
by Rodrigo Cerna-Chavez, Alba Ortega-Gasco, Hafiz Muhammad Azhar Baig, Nathan Ehrenreich, Thibaud Metais, Michael J. Scandura, Kinga Bujakowska, Eric A. Pierce and Marcela Garita-Hernandez
Int. J. Mol. Sci. 2025, 26(1), 114; https://doi.org/10.3390/ijms26010114 - 26 Dec 2024
Viewed by 1953
Abstract
Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations, small insertions, and deletions (indels) into the genome. It uses a Cas9-nickase (nCas9) [...] Read more.
Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations, small insertions, and deletions (indels) into the genome. It uses a Cas9-nickase (nCas9) fused to a reverse transcriptase (RT) as an editor and a PE guide RNA (pegRNA), which introduces the desired edit with great precision without creating double-strand breaks (DSBs). PE leads to minimal off-targets or indels when introducing single-strand breaks (SSB) in the DNA. Low efficiency can be an obstacle to its use in hiPSCs, especially when the genetic context precludes the screening of multiple pegRNAs, and other strategies must be employed to achieve the desired edit. We developed a PE platform to efficiently generate isogenic models of Mendelian disorders. We introduced the c.25G>A (p.V9M) mutation in the NMNAT1 gene with over 25% efficiency by optimizing the PE workflow. Using our optimized system, we generated other isogenic models of inherited retinal diseases (IRDs), including the c.1481C>T (p.T494M) mutation in PRPF3 and the c.6926A>C (p.H2309P) mutation in PRPF8. We modified several determinants of the hiPSC PE procedure, such as plasmid concentrations, PE component ratios, and delivery method settings, showing that our improved workflow increased the hiPSC editing efficiency. Full article
(This article belongs to the Special Issue Molecular Research in Retinal Degeneration)
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16 pages, 11533 KiB  
Article
Integration and Differentiation of Transplanted Human iPSC-Derived Retinal Ganglion Cell Precursors in Murine Retinas
by Qiannan Lei, Rong Zhang, Fa Yuan and Mengqing Xiang
Int. J. Mol. Sci. 2024, 25(23), 12947; https://doi.org/10.3390/ijms252312947 - 2 Dec 2024
Viewed by 1378
Abstract
Optic neuropathy such as glaucoma, stemming from retinal ganglion cell (RGC) degeneration, is a leading cause of visual impairment. Given the substantial loss of RGCs preceding clinical detection of visual impairment, cell replacement therapy emerges as a compelling treatment strategy. Human-induced pluripotent stem [...] Read more.
Optic neuropathy such as glaucoma, stemming from retinal ganglion cell (RGC) degeneration, is a leading cause of visual impairment. Given the substantial loss of RGCs preceding clinical detection of visual impairment, cell replacement therapy emerges as a compelling treatment strategy. Human-induced pluripotent stem cells (hiPSCs) serve as invaluable tools for exploring the developmental processes and pathological mechanisms associated with human RGCs. Utilizing a 3D stepwise differentiation protocol for retinal organoids, we successfully differentiated RGC precursors from hiPSCs harboring a BRN3B-GFP RGC reporter, verified by GFP expression. Intravitreal transplantation of enriched RGC precursors into healthy or N-methyl-D-aspartate (NMDA)-injured mice demonstrated their survival, migration, and integration into the proper retinal layer, the ganglion cell layer, after 3 weeks. Notably, these transplanted cells differentiated into marker-positive RGCs and extended neurites. Moreover, enhanced cell survival was observed with immunosuppressive and anti-inflammatory treatments of the host prior to transplantation. These data underscore the potential of transplanted RGC precursors as a promising therapeutic avenue for treating degenerative retinal diseases resulting from RGC dysfunction. Full article
(This article belongs to the Special Issue Molecular Research in Retinal Degeneration)
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15 pages, 1418 KiB  
Article
A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa
by Natalya Ogorodova, Anna Stepanova, Vitaly Kadyshev, Svetlana Kuznetsova, Olga Ismagilova, Alena Chukhrova, Aleksandr Polyakov, Sergey Kutsev and Olga Shchagina
Int. J. Mol. Sci. 2024, 25(22), 12169; https://doi.org/10.3390/ijms252212169 - 13 Nov 2024
Cited by 2 | Viewed by 1197
Abstract
Pathogenic variants in the USH2A gene are the primary cause of both non-syndromic autosomal recessive inherited retinitis pigmentosa (RP) and the syndromic form, characterized by retinal degeneration and sensorineural hearing loss. This study presents a comparative assessment of the genetic variant spectrum in [...] Read more.
Pathogenic variants in the USH2A gene are the primary cause of both non-syndromic autosomal recessive inherited retinitis pigmentosa (RP) and the syndromic form, characterized by retinal degeneration and sensorineural hearing loss. This study presents a comparative assessment of the genetic variant spectrum in the USH2A gene among Russian patients in two clinical groups. A retrospective analysis was conducted on massive parallel panel sequencing data from 2415 blood samples of unrelated patients suspected of having hereditary retinal diseases. The copy number of USH2A exons was determined using the quantitative MLPA method with the MRC-Holland SALSA MLPA kit. Biallelic pathogenic and likely pathogenic variants in the USH2A gene were identified in 69 patients (8.7%). In the group of patients with isolated hereditary RP (55 patients), the most frequent pathogenic variants were p.(Glu4445_Ser4449delinsAspLeu) (20.9%), p.(Trp3955*) (15.5%), and p.(Cys934Trp) (5.5%). In patients with the syndromic form (14 patients), the most frequent variants were p.(Trp3955*) (35.7%) and c.8682-9A>G (17.9%). It was found that patients with isolated vision impairment rarely had two “null” variants (17.8%), whereas this was common among patients with both hearing and vision impairment (71.4%) (p ≤ 0.05), explaining the severity of the disease and the earlier onset of clinical symptoms in the syndromic form of RP. Ten previously undescribed loss-of-function variants were identified. The estimated prevalence of USH2A-associated retinal dystrophy in Russia was 1.9 per 100,000 individuals. The obtained data on the differences in the spectra of genetic variants in the USH2A gene in the two studied groups highlight the importance of establishing genotype–phenotype correlations and predicting disease severity, aiming at potential early cochlear implantation and selection of target therapy. Full article
(This article belongs to the Special Issue Molecular Research in Retinal Degeneration)
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23 pages, 15994 KiB  
Article
C3a Mediates Endothelial Barrier Disruption in Brain-Derived, but Not Retinal, Human Endothelial Cells
by Hannah Nora Wolf, Larissa Guempelein, Juliane Schikora and Diana Pauly
Int. J. Mol. Sci. 2024, 25(20), 11240; https://doi.org/10.3390/ijms252011240 - 19 Oct 2024
Viewed by 4186
Abstract
Neuromyelitis optica spectrum disorder (NMOSD) is associated with pathological aquaporin-4 immunoglobulin G (AQP4-IgG), which cause brain damage. However, the impact of AQP4-IgG on retinal tissue remains unclear. Additionally, dysregulated complement anaphylatoxins C3a and C5a, known to modulate the endothelial barrier, are implicated in [...] Read more.
Neuromyelitis optica spectrum disorder (NMOSD) is associated with pathological aquaporin-4 immunoglobulin G (AQP4-IgG), which cause brain damage. However, the impact of AQP4-IgG on retinal tissue remains unclear. Additionally, dysregulated complement anaphylatoxins C3a and C5a, known to modulate the endothelial barrier, are implicated in NMOSD. This study evaluates the susceptibility of human brain microvascular endothelial cells (HBMEC) and human retinal endothelial cells (HREC) to C3a- and C5a-mediated stress using real-time cell barrier analysis, immunocytochemical staining, qPCR and IgG transmigration assays. The findings reveal that C3a induced a concentration-dependent paracellular barrier breakdown and increased transcellular permeability in HBMEC, while HREC maintained barrier integrity under the same conditions. C5a attenuated C3a-induced disruption in HBMEC, indicating a protective role. Anaphylatoxin treatment elevated transcript levels of complement component C3 and increased C5 gene and protein expression in HREC, with no changes observed in HBMEC. In HBMEC, C5a treatment led to a transient upregulation of C3a receptor (C3AR) mRNA and an early decrease in C5a receptor 1 (C5AR1) protein detection. Conversely, HREC exhibited a late increase in C5aR1 protein levels. These results indicate that the retinal endothelial barrier is more stable under anaphylatoxin-induced stress compared to the brain, potentially offering better protection against paracellular AQP4-IgG transport. Full article
(This article belongs to the Special Issue Molecular Research in Retinal Degeneration)
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Review

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24 pages, 3760 KiB  
Review
Retinal Organoids: Innovative Tools for Understanding Retinal Degeneration
by Nadia Galindo-Cabello, Estefanía Caballano-Infantes, Gregorio Benites, Salvador Pastor-Idoate, Francisco J. Diaz-Corrales and Ricardo Usategui-Martín
Int. J. Mol. Sci. 2025, 26(7), 3263; https://doi.org/10.3390/ijms26073263 - 1 Apr 2025
Viewed by 848
Abstract
Retinal degenerative diseases (RDDs) comprise diverse genetic and phenotypic conditions that cause progressive retinal dysfunction and cell loss, leading to vision impairment or blindness. Most RDDs lack appropriate animal models for their study, which affects understanding their disease mechanisms and delays the progress [...] Read more.
Retinal degenerative diseases (RDDs) comprise diverse genetic and phenotypic conditions that cause progressive retinal dysfunction and cell loss, leading to vision impairment or blindness. Most RDDs lack appropriate animal models for their study, which affects understanding their disease mechanisms and delays the progress of new treatment development. Recent advances in stem cell engineering, omics, and organoid technology are facilitating research into diseases for which there are no previously existing models. The development of retinal organoids produced from human stem cells has impacted the study of retinal development as well as the development of in vitro models of diseases, opening possibilities for applications in regenerative medicine, drug discovery, and precision medicine. In this review, we recapitulate research in the retinal organoid models for RDD, mentioning some of the main pathways underlying retinal neurodegeneration that can be studied in these new models, as well as their limitations and future challenges in this rapidly advancing field. Full article
(This article belongs to the Special Issue Molecular Research in Retinal Degeneration)
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