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Personalized Diagnosis and Therapies in Retinal Diseases
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Personalized Diagnosis and Therapies in Retinal Diseases

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy and Drug Delivery".

Deadline for manuscript submissions: closed (30 September 2024) | Viewed by 7065

Special Issue Editor

Dr. Ana Maria Dascalu

E-Mail Website
Guest Editor
Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy Bucharest, 020021 Bucharest, Romania
Interests: diabetic retinopathy; glaucoma; age related macular degeneration; optic neuropathies, inflammatory biomarkers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

More than 100 hundred years ago, Sir William Osler said, “The good physician treats the disease; the great physician treats the patient who has the disease”. Nowadays, after the development of standardized therapies and protocols based on solid clinical evidence, this old saying is again of interest, with the significant development of genetics and artificial intelligence. Personalized medicine is a new emerging trend that allows the tailoring of healthcare according to the needs of individual patients. Understanding the complex interplay of pathophysiological mechanisms triggered by genetic, inflammatory, and metabolic factors helps in the provision of more efficient care and attainment of better outcomes. Diabetic retinopathy, age-related macular degeneration and glaucoma are some of the most frequent causes on blindness and visual impairment worldwide. The identification of novel biomarkers and characterization of different phenotypes may help in risk stratification and the adjustment of the therapeutic approach. Deep learning models based on AI and telemedicine screening have been developed more and more in recent years, and increasing evidence shows that they are helpful in the decision-making process and for tailoring the therapeutic approach. Ocular gene therapy has reached important milestones starting with approval in 2017 of voretigene neparvovec-rzyl (Luxturna, Spark Therapeutics) for retinal dystrophies with RPE65 mutations, followed by ongoing clinical trials for AMD, glaucoma and diabetic retinopathy.

For this Special Issue, we welcome original papers, reviews, commentaries, and short reports regarding a personalized approach in retinal diseases that enables treatment to be based on an individual's genetic, biomarker profile, or artificial intelligence models.

Dr. Ana Dascalu
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. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • biomarkers
  • gene therapy
  • artificial intelligence in ophthalmology
  • inherited retinal diseases
  • diabetic retinopathy
  • age-related macular degeneration
  • glaucoma

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Published Papers (5 papers)

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Research

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14 pages, 838 KiB  
Article
Retinal Microvascular Changes in Association with Endothelial Glycocalyx Damage and Arterial Stiffness in Patients with Diabetes Mellitus Type 2: A Cross-Sectional Study in a Greek Population
by Chrysa Agapitou, Theodoros N. Sergentanis, John Thymis, George Pavlidis, Stamatios Lampsas, Emmanouil Korakas, Aikaterini Kountouri, Loukia Pliouta, Efthymios Karmiris, Areti Lagiou, Panagiotis Theodossiadis, Vaia Lambadiari, Ignatios Ikonomidis and Irini Chatziralli
J. Pers. Med. 2024, 14(9), 995; https://doi.org/10.3390/jpm14090995 - 19 Sep 2024
Viewed by 667
Abstract
Purpose: To evaluate the potential association between endothelial glycocalyx damage, as well as arterial stiffness, and the retinal changes on optical coherence tomography (OCT) and OCT-angiography (OCT-A) in patients with type 2 diabetes mellitus (DM). Methods: Participants in this cross-sectional study were 65 [...] Read more.
Purpose: To evaluate the potential association between endothelial glycocalyx damage, as well as arterial stiffness, and the retinal changes on optical coherence tomography (OCT) and OCT-angiography (OCT-A) in patients with type 2 diabetes mellitus (DM). Methods: Participants in this cross-sectional study were 65 patients with DM type 2 and 42 age- and gender-matched controls without DM. The demographic and clinical characteristics of the participants were recorded. All patients underwent a thorough ophthalmological examination and multimodal imaging, including fundus photography, OCT, and OCT-A. In addition, evaluation of the endothelial glycocalyx thickness by measuring the perfused boundary region (PBR5-25) of the sublingual microvessel, as well as of the arterial stiffness, by measuring the carotid–femoral pulse wave velocity (PWV), the central aortic pressures and the augmentation index (Aix) was performed. Univariate and multivariate logistic regression analysis was performed for the examination of the potential association between the eye imaging variables and the cardiovascular-related variables. The odds ratios (OR) with the respective 95% confidence intervals (CI) were calculated. A p-value < 0.05 was considered statistically significant. Results: Patients with DM presented significantly higher PBR5-25 compared to controls without DM (p = 0.023). At the univariate analysis, increased PBR5-25 (≥2.19 μm vs. <2.19 μm) was associated with decreased peripapillary VD at the superior quadrant (univariate OR (95% CI) = 0.34 (0.12–0.93), p = 0.037). Multivariate logistic regression analysis showed that increased PWV (≥13.7 m/s vs. <13.7 m/s) was associated with an increased foveal avascular zone (FAZ) area on OCT-A (p = 0.044) and increased FAZ perimeter (p = 0.048). Moreover, increased Aix (≥14.745% vs. <14.745%) was associated with diabetic macular edema (DME) presence (p = 0.050) and increased perifoveal and parafoveal superior and temporal thickness on OCT (p < 0.05 for all associations). Conclusions: Markers of endothelial damage and arterial stiffness were associated with structural and microvascular retinal alterations in patients with DM, pointing out that OCT-A could be a useful biomarker for detecting potential cardiovascular risk in such patients. Full article
(This article belongs to the Special Issue Personalized Diagnosis and Therapies in Retinal Diseases)
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16 pages, 1478 KiB  
Article
Efficacity and Safety of the Fluocinolone Acetonide Implant in Uveitic Macular Edema: A Real-Life Study from the French Uveitis Network
by Matthieu Jabbour, Laurent Kodjikian, Alexandre Bourdin, Marie-Bénédicte Rougier, Yasmine Serrar, Michel Weber, Hélène Massé, Driss Mazhar, Sara Perez-Roustit, Christophe Chiquet, Marie Nöelle Delyfer, Bahram Bodaghi and Sara Touhami
J. Pers. Med. 2024, 14(3), 245; https://doi.org/10.3390/jpm14030245 - 24 Feb 2024
Viewed by 1319
Abstract
Purpose: To evaluate the safety and efficacy of the fluocinolone acetonide implant (FAi, Iluvien® Horus pharma, Nice, France) in non-infectious uveitic macular edema (UME) and to approach the predictive factors of treatment response. Methods: This retrospective, multicenter real-life study included patients with [...] Read more.
Purpose: To evaluate the safety and efficacy of the fluocinolone acetonide implant (FAi, Iluvien® Horus pharma, Nice, France) in non-infectious uveitic macular edema (UME) and to approach the predictive factors of treatment response. Methods: This retrospective, multicenter real-life study included patients with chronic non-infectious UME who received intravitreal FAi after at least two dexamethasone implants (DEXi). Results: Twenty-six eyes from 22 patients (73.1% of females) were included. The mean age was 60.4 ± 16 years. The mean follow-up was 11.4 ± 2 months. The mean baseline best-corrected visual acuity (BCVA) was 0.43 ± 0.36 LogMAR, improving significantly after 1, 3, 6 and 12 months (all p < 0.05 vs. baseline). The mean baseline central macular thickness (CMT) was 429 ± 110 μm, improving significantly after 1, 3, 6 and 12 months (all p < 0.05 vs. baseline). Five eyes (19.2%) developed ocular hypertension during the follow-up, requiring initiation or strengthening of intraocular pressure lowering medication. The majority of eyes (77%) did not require any rescue DEXi during the available 12-month follow-up. The resolution of UME after DEXi seemed to predict the anatomical response after FAi. The baseline presence of a disorganization of the inner retinal layers (DRIL) and hyperreflective foci (HRF) were both associated with a higher likelihood of requiring rescue DEXi injections. Conclusion: FAi implantation led to a significant BCVA and CMT improvement with a good safety profile over the 12-month follow-up. Predictive factors of treatment outcomes seem to include the anatomical response to DEXi and the presence of DRIL and HRF at baseline. Full article
(This article belongs to the Special Issue Personalized Diagnosis and Therapies in Retinal Diseases)
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Review

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20 pages, 1676 KiB  
Review
Advances in Therapeutic Contact Lenses for the Management of Different Ocular Conditions
by Mariana Ioniță, George Mihail Vlăsceanu, Alin Georgian Toader and Marius Manole
J. Pers. Med. 2023, 13(11), 1571; https://doi.org/10.3390/jpm13111571 - 3 Nov 2023
Cited by 4 | Viewed by 2842
Abstract
In the advent of an increasingly aging population and due to the popularity of electronic devices, ocular conditions have become more prevalent. In the world of medicine, accomplishing eye medication administration has always been a difficult task. Despite the fact that there are [...] Read more.
In the advent of an increasingly aging population and due to the popularity of electronic devices, ocular conditions have become more prevalent. In the world of medicine, accomplishing eye medication administration has always been a difficult task. Despite the fact that there are many commercial eye drops, most of them have important limitations, due to quick clearance mechanisms and ocular barrers. One solution with tremendous potential is the contact lens used as a medication delivery vehicle to bypass this constraint. Therapeutic contact lenses for ocular medication delivery have attracted a lot of attention because they have the potential to improve ocular bioavailability and patient compliance, both with minimal side effects. However, it is essential not to compromise essential features such as water content, optical transparency, and modulus to attain positive in vitro and in vivo outcomes with respect to a sustained drug delivery profile from impregnated contact lenses. Aside from difficulties like drug stability and burst release, the changing of lens physico-chemical features caused by therapeutic or non-therapeutic components can limit the commercialization potential of pharmaceutical-loaded lenses. Research has progressed towards bioinspired techniques and smart materials, to improve the efficacy of drug-eluting contact lenses. The bioinspired method uses polymeric materials, and a specialized molecule-recognition technique called molecular imprinting or a stimuli–responsive system to improve biocompatibility and support the drug delivery efficacy of drug-eluting contact lenses. This review encompasses strategies of material design, lens manufacturing and drug impregnation under the current auspices of ophthalmic therapies and projects an outlook onto future opportunities in the field of eye condition management by means of an active principle-eluting contact lens. Full article
(This article belongs to the Special Issue Personalized Diagnosis and Therapies in Retinal Diseases)
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Other

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28 pages, 1978 KiB  
Systematic Review
Complement Inhibitors for Geographic Atrophy in Age-Related Macular Degeneration—A Systematic Review
by Ana Maria Dascalu, Catalin Cicerone Grigorescu, Dragos Serban, Corneliu Tudor, Cristina Alexandrescu, Daniela Stana, Sanda Jurja, Andreea Cristina Costea, Catalin Alius, Laura Carina Tribus, Dan Dumitrescu, Dan Bratu and Bogdan Mihai Cristea
J. Pers. Med. 2024, 14(9), 990; https://doi.org/10.3390/jpm14090990 - 17 Sep 2024
Viewed by 831
Abstract
Background/Objectives: Age-related macular degeneration (AMD) is one of the main causes of blindness and visual impairment worldwide. Intravitreal complement inhibitors are an emergent approach in the treatment of AMD, which have had encouraging results. This systematic review analyzes the outcomes and safety of [...] Read more.
Background/Objectives: Age-related macular degeneration (AMD) is one of the main causes of blindness and visual impairment worldwide. Intravitreal complement inhibitors are an emergent approach in the treatment of AMD, which have had encouraging results. This systematic review analyzes the outcomes and safety of complement inhibitor therapies for GA in AMD cases. Methods: A comprehensive search on the PubMed and Web of Science databases returned 18 studies involving various complement inhibitor agents, with a total of 4272 patients and a mean follow-up of 68.2 ± 20.4 weeks. Results: Most treated patients were white (96.8%) and female (55.8%), with a mean age of 78.3 ± 7.8 years and a mean GA area of 8.0 ± 3.9 mm2. There were no differences in visual function change between treated and control participants. The mean GA area change was 2.4 ± 0.7 mm2 in treated participants vs. 2.7 ± 0.8 mm2 in control groups (p < 0.001). The ocular and systemic side effects were similar to those of intravitreal anti-VEGF. A less-understood effect was that of the onset of choroidal neovascularization (CNV) in 1.1–13% of patients; this effect was found to be more frequent in patients with neovascular AMD in the fellow eye or nonexudative CNV in the study eye at baseline. Conclusions: Complement inhibitors may represent a useful therapy for GA in AMD, but a personalized approach to patient selection is necessary to optimize the outcomes. Full article
(This article belongs to the Special Issue Personalized Diagnosis and Therapies in Retinal Diseases)
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11 pages, 630 KiB  
Systematic Review
Real-World Efficacy of Intravitreal Faricimab for Diabetic Macular Edema: A Systematic Review
by Safiullah Nasimi, Nasratullah Nasimi, Jakob Grauslund, Anna Stage Vergmann and Yousif Subhi
J. Pers. Med. 2024, 14(9), 913; https://doi.org/10.3390/jpm14090913 - 28 Aug 2024
Viewed by 868
Abstract
Background: Diabetic macular edema (DME) is a prevalent exudative maculopathy, and anti-vascular endothelial growth factor (anti-VEGF) therapy is the first-line choice for treatment. Faricimab, a novel anti-VEGF and anti-angiopoietin-2 bispecific agent, has recently been approved for the treatment of DME. In this study, [...] Read more.
Background: Diabetic macular edema (DME) is a prevalent exudative maculopathy, and anti-vascular endothelial growth factor (anti-VEGF) therapy is the first-line choice for treatment. Faricimab, a novel anti-VEGF and anti-angiopoietin-2 bispecific agent, has recently been approved for the treatment of DME. In this study, we systematically reviewed the real-world evidence of the efficacy of faricimab for the treatment of DME. Methods: We searched 11 databases for eligible studies. Study selection and data extraction were made independently by two authors in duplicate. Eligible studies were reviewed qualitatively. Results: We identified 10 eligible studies that summarized data from a total of 6054 eyes with a mean follow-up of between 55 days and 12 months. Five studies reported outcomes in a population of both treatment-naïve and previously treated eyes, and five studies reported outcomes exclusively in relation to eyes that were previously treated. Faricimab improved the best-corrected visual acuity and macular thickness. The extension of the treatment interval was possible in 61–81% of treatment-naïve eyes and 36–78% of previously treated eyes. Conclusions: Faricimab for DME yields clinical outcomes similar to those known from previous anti-VEGF treatments but with extended treatment intervals, thus lowering the burden of therapy for patients. Long-term real-world studies are warranted. Full article
(This article belongs to the Special Issue Personalized Diagnosis and Therapies in Retinal Diseases)
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