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Recent Advances in Molecular and Cellular Research in Ophthalmology
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Recent Advances in Molecular and Cellular Research in Ophthalmology

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 20 March 2025 | Viewed by 3111

Special Issue Editor

Dr. Zala Lužnik Marzidovšek

E-Mail Website
Guest Editor
Eye Hospital, Ljubljana University Medical Centre, 1000 Ljubljana, Slovenia
Interests: cornea; corneal surface disease; corneal transplantation; eye banking; corneal stem cells; corneal immunology

Special Issue Information

Dear Colleagues,

We are delighted to have the opportunity to publish compelling and pioneering work in our upcoming Special Issue, entitled "Recent Advances in Molecular and Cellular Research in Ophthalmology", featured in the International Journal of Molecular Sciences.

Various eye conditions can lead to severe vision loss and blindness, which is known to adversely affect quality of life and represent a major global health concern. Thus, new insights in identifying genetic and specific risk factors, new biomarkers, and the underlying pathophysiologic mechanism of various ocular disease conditions are needed. Moreover, a deepened understanding of specific molecular and cellular mechanisms is of paramount importance to enable the development of new preventive, diagnostic, and therapeutic treatment strategies, including regenerative therapies such as gene therapy, stem cell therapies, and the development of new molecular treatment targets. The aim of this Special Issue is to compile contributions from leading experts in the fields of ophthalmology, pharmacology, genetics, and tissue engineering, delving into the latest advancements that span the spectrum from fundamental molecular mechanisms to groundbreaking clinical applications in ophthalmology.

Dr. Zala Lužnik Marzidovšek
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

  • eye disease
  • ophthalmology
  • molecular mechanisms
  • cellular mechanism
  • stem cell therapy
  • tissue engineering
  • gene therapy

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Published Papers (3 papers)

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20 pages, 1417 KiB  
Review
Molecular and Cellular Mechanisms of the Therapeutic Effect of Mesenchymal Stem Cells and Extracellular Vesicles in Corneal Regeneration
by Nina Kobal, Miha Marzidovšek, Petra Schollmayer, Elvira Maličev, Marko Hawlina and Zala Lužnik Marzidovšek
Int. J. Mol. Sci. 2024, 25(20), 11121; https://doi.org/10.3390/ijms252011121 - 16 Oct 2024
Viewed by 989
Abstract
The cornea is a vital component of the visual system, and its integrity is crucial for optimal vision. Damage to the cornea resulting from trauma, infection, or disease can lead to blindness. Corneal regeneration using mesenchymal stem cells (MSCs) and MSC-derived extracellular vesicles [...] Read more.
The cornea is a vital component of the visual system, and its integrity is crucial for optimal vision. Damage to the cornea resulting from trauma, infection, or disease can lead to blindness. Corneal regeneration using mesenchymal stem cells (MSCs) and MSC-derived extracellular vesicles (MSC-EVs) offers a promising alternative to corneal transplantation. MSCs are multipotent stromal cells that can differentiate into various cell types, including corneal cells. They can also secrete a variety of anti-inflammatory cytokines and several growth factors, promoting wound healing and tissue reconstruction. This review summarizes the current understanding of the molecular and cellular mechanisms by which MSCs and MSC-EVs contribute to corneal regeneration. It discusses the potential of MSCs and MSC-EV for treating various corneal diseases, including corneal epithelial defects, dry eye disease, and keratoconus. The review also highlights finalized human clinical trials investigating the safety and efficacy of MSC-based therapy in corneal regeneration. The therapeutic potential of MSCs and MSC-EVs for corneal regeneration is promising; however, further research is needed to optimize their clinical application. Full article
(This article belongs to the Special Issue Recent Advances in Molecular and Cellular Research in Ophthalmology)
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15 pages, 1300 KiB  
Review
A Mini-Review on Gene Therapy in Glaucoma and Future Directions
by Nicoleta Anton, Aida Geamănu, Raluca Iancu, Ruxandra Angela Pîrvulescu, Alina Popa-Cherecheanu, Ramona Ileana Barac, Geanina Bandol and Camelia Margareta Bogdănici
Int. J. Mol. Sci. 2024, 25(20), 11019; https://doi.org/10.3390/ijms252011019 - 14 Oct 2024
Viewed by 1135
Abstract
Glaucoma is a group of optic neuropathies characterized by the degeneration of retinal ganglion cells and the loss of their axons in the optic nerve. The only approved therapies for the treatment of glaucoma are topical medications and surgical procedures aimed at lowering [...] Read more.
Glaucoma is a group of optic neuropathies characterized by the degeneration of retinal ganglion cells and the loss of their axons in the optic nerve. The only approved therapies for the treatment of glaucoma are topical medications and surgical procedures aimed at lowering intraocular pressure. Gene therapy involves the insertion, removal, or modification of genetic material within cells to repair or compensate for the loss of a gene’s function. It describes a process or technology that enables the genetic modification of cells to produce a therapeutic effect. However, changing the genetic material alone does not extend the duration of overexpression of proteins that combat disease, nor does it facilitate the production of new proteins for this purpose. We reviewed the literature concerning the use of gene therapy in the treatment of glaucoma and explored the future directions that this innovation may offer. Three genes associated with glaucoma have been identified within these loci: myocilin/trabecular meshwork glucocorticoid response (TIGR) (GLC1A), optineurin (GLC1E), and WDR36 (GLC1G). Among these, the most extensively studied glaucoma gene is myocilin (a TM-inducible glucocorticoid response gene). Building on previous successes, researchers have begun to apply genetic therapeutic approaches to alleviate or reduce symptoms associated with ocular hypertension (OHT) and glaucoma-like optic neuropathy (GON). It is evident that several therapeutic strategies exist that modulate aqueous humor production and flow, thereby regulating intraocular pressure (IOP) and protecting retinal ganglion cells (RGCs) from apoptosis. With the emergence of gene therapy as a potentially viable approach to preserving vision, new methods for managing glaucoma may soon become available. Genomic therapy is a promising treatment option for glaucoma patients and has significant potential for widespread clinical application. Full article
(This article belongs to the Special Issue Recent Advances in Molecular and Cellular Research in Ophthalmology)
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15 pages, 3438 KiB  
Case Report
Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome
by Anastasia M. Bobreshova, Sofya A. Ionova, Vitaly V. Kadyshev, Natella V. Sukhanova, Iuliia V. Viakhireva, Alexandra Yu. Filatova, Natalia V. Zhurkova, Peter A. Sparber, Andrey V. Marakhonov, Tatyana A. Vasilyeva, Olga A. Shchagina, Sergey I. Kutsev and Rena A. Zinchenko
Int. J. Mol. Sci. 2024, 25(20), 11260; https://doi.org/10.3390/ijms252011260 - 19 Oct 2024
Viewed by 670
Abstract
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein [...] Read more.
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in HPS1, HPS6, and BLOC1S6 genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases. Full article
(This article belongs to the Special Issue Recent Advances in Molecular and Cellular Research in Ophthalmology)
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