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Retinopathies: A Challenge for Early Diagnosis, Innovative Treatments and Reliable...
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Retinopathies: A Challenge for Early Diagnosis, Innovative Treatments and Reliable Follow-Up

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: 25 June 2024 | Viewed by 6539

Special Issue Editors

Dr. Stefania Marsili

E-Mail Website
Guest Editor
Georgia Tech Affiliate, Georgia Institute of Technology, Atlanta, GA, USA
Interests: eye diseases: neurodegeneration, neuroregeneration
Dr. Dario Rusciano

E-Mail Website
Guest Editor
Research Center, Catania, Italy
Interests: eye diseases: diagnostic, prognostic and therapeutic approaches

Special Issue Information

Dear Colleagues,

Vision is a complex mechanism involving all the eye structures, the optic nerve, and the brain. Central to the process of vision is the retina, which converts light signals into electric signals that the brain finally interprets as vision. The retina is a thin layer of neural tissue that is unable to regenerate after damage, and it is subjected throughout life to continuous strong oxidative stress, which comes from light and the intense metabolic activities triggered by light in order to produce vision. The main pathologies affecting the retina are diabetic retinopathy, age-related macular degeneration, premature retinopathy, and glaucoma. The latter is often considered a class per se because of a completely different etiology; however, it primarily involves the retinal ganglion cells and so must be included within the group of retinopathies. Such retinopathies are all serious sight-threatening diseases, responsible for the loss of vision of hundreds of millions of individuals worldwide, and for which, however, we still lack reliable and efficient treatments.

In this Special Issue we intend to present the most recent knowledge on the etiology of each one of these pathologies, from which new therapeutic targets should emerge. Additionally, we intend to solicitate a new way to look at them, proposing new therapeutic approaches and innovative treatments, even at the hypothetic level, in order to stimulate and promote new research, hopefully leading to more efficient ways to fight these diseases.

Another point, equally critical, is the way to obtain an early diagnosis of the disease before it becomes clinically relevant in order to start possible non-invasive treatments able to delay progression as much as possible. Connected to this point is the necessity to have reliable, sensitive, short-term assays able to provide an efficient follow-up of treated patients in order to establish their response to the precocious therapies.

Therefore, all contributions to these fields (research papers, reviews, mini-reviews, documented hypotheses) are welcome for publication in this Special Issue.

Dr. Stefania Marsili
Dr. Dario Rusciano
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. Medicina 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 1800 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

  • eye
  • retina
  • retinopathy
  • early diagnosis
  • novel therapies
  • short-term follow-up

Published Papers (4 papers)

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Research

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11 pages, 834 KiB  
Article
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
by Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio and Elena D’Alcamoadd Show full author list remove Hide full author list
Medicina 2024, 60(2), 254; https://doi.org/10.3390/medicina60020254 - 01 Feb 2024
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Abstract
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over [...] Read more.
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes found to date related to ADRP, RP1 pathogenic variants have been identified in 5–10% of cases. In a cohort of RCD patients from the Palermo province on the island of Sicily, we identified a prevalent nonsense variant in RP1, which was associated with ADRP. The objective of our study was to analyse the clinical and molecular data of this patient cohort and to evaluate the potential presence of a founder effect. Materials and Methods. From 2005 to January 2023, 84 probands originating from Western Sicily (Italy) with a diagnosis of RCD or RP and their relatives underwent deep phenotyping, which was performed in various Italian clinical institutions. Molecular characterisation of patients and familial segregation of pathogenic variants were carried out in different laboratories using Sanger and/or next-generation sequencing (NGS). Results. Among 84 probands with RCD/RP, we found 28 heterozygotes for the RP1 variant c.2219C>G, p.Ser740* ((NM_006269.2)*, which was therefore significantly prevalent in this patient cohort. After a careful interview process, we ascertained that some of these patients shared the same pedigree. Therefore, we were ultimately able to define 20 independent family groups with no traceable consanguinity. Lastly, analysis of clinical data showed, in our patients, that the p.Ser740* nonsense variant was often associated with a late-onset and relatively mild phenotype. Conclusions. The high prevalence of the p.Ser740* variant in ADRP patients from Western Sicily suggests the presence of a founder effect, which has useful implications for the molecular diagnosis of RCD in patients coming from this Italian region. This variant can be primarily searched for in RP-affected subjects displaying compatible modes of transmission and phenotypes, with an advantage in terms of the required costs and time for analysis. Moreover, given its high prevalence, the RP1 p.Ser740* variant could represent a potential candidate for the development of therapeutic strategies based on gene editing or translational read-through therapy for suppression of nonsense variants. Full article
(This article belongs to the Special Issue Retinopathies: A Challenge for Early Diagnosis, Innovative Treatments and Reliable Follow-Up)
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Review

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15 pages, 358 KiB  
Review
Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases
by Uday Pratap Singh Parmar, Pier Luigi Surico, Rohan Bir Singh, Francesco Romano, Carlo Salati, Leopoldo Spadea, Mutali Musa, Caterina Gagliano, Tommaso Mori and Marco Zeppieri
Medicina 2024, 60(4), 527; https://doi.org/10.3390/medicina60040527 - 23 Mar 2024
Viewed by 858
Abstract
Artificial intelligence (AI) has emerged as a transformative tool in the field of ophthalmology, revolutionizing disease diagnosis and management. This paper provides a comprehensive overview of AI applications in various retinal diseases, highlighting its potential to enhance screening efficiency, facilitate early diagnosis, and [...] Read more.
Artificial intelligence (AI) has emerged as a transformative tool in the field of ophthalmology, revolutionizing disease diagnosis and management. This paper provides a comprehensive overview of AI applications in various retinal diseases, highlighting its potential to enhance screening efficiency, facilitate early diagnosis, and improve patient outcomes. Herein, we elucidate the fundamental concepts of AI, including machine learning (ML) and deep learning (DL), and their application in ophthalmology, underscoring the significance of AI-driven solutions in addressing the complexity and variability of retinal diseases. Furthermore, we delve into the specific applications of AI in retinal diseases such as diabetic retinopathy (DR), age-related macular degeneration (AMD), Macular Neovascularization, retinopathy of prematurity (ROP), retinal vein occlusion (RVO), hypertensive retinopathy (HR), Retinitis Pigmentosa, Stargardt disease, best vitelliform macular dystrophy, and sickle cell retinopathy. We focus on the current landscape of AI technologies, including various AI models, their performance metrics, and clinical implications. Furthermore, we aim to address challenges and pitfalls associated with the integration of AI in clinical practice, including the “black box phenomenon”, biases in data representation, and limitations in comprehensive patient assessment. In conclusion, this review emphasizes the collaborative role of AI alongside healthcare professionals, advocating for a synergistic approach to healthcare delivery. It highlights the importance of leveraging AI to augment, rather than replace, human expertise, thereby maximizing its potential to revolutionize healthcare delivery, mitigate healthcare disparities, and improve patient outcomes in the evolving landscape of medicine. Full article
(This article belongs to the Special Issue Retinopathies: A Challenge for Early Diagnosis, Innovative Treatments and Reliable Follow-Up)
35 pages, 1913 KiB  
Review
Pharmacotherapy and Nutritional Supplements for Neovascular Eye Diseases
by Dario Rusciano and Paola Bagnoli
Medicina 2023, 59(7), 1334; https://doi.org/10.3390/medicina59071334 - 20 Jul 2023
Cited by 1 | Viewed by 1942
Abstract
In this review, we aim to provide an overview of the recent findings about the treatment of neovascular retinal diseases. The use of conventional drugs and nutraceuticals endowed with antioxidant and anti-inflammatory properties that may support conventional therapies will be considered, with the [...] Read more.
In this review, we aim to provide an overview of the recent findings about the treatment of neovascular retinal diseases. The use of conventional drugs and nutraceuticals endowed with antioxidant and anti-inflammatory properties that may support conventional therapies will be considered, with the final aim of achieving risk reduction (prevention) and outcome improvement (cooperation between treatments) of such sight-threatening proliferative retinopathies. For this purpose, we consider a medicinal product one that contains well-defined compound(s) with proven pharmacological and therapeutic effects, usually given for the treatment of full-blown diseases. Rarely are prescription drugs given for preventive purposes. A dietary supplement refers to a compound (often an extract or a mixture) used in the prevention or co-adjuvant treatment of a given pathology. However, it must be kept in mind that drug–supplement interactions may exist and might affect the efficacy of certain drug treatments. Moreover, the distinction between medicinal products and dietary supplements is not always straightforward. For instance, melatonin is formulated as a medicinal product for the treatment of sleep and behavioral problems; at low doses (usually below 1 mg), it is considered a nutraceutical, while at higher doses, it is sold as a psychotropic drug. Despite their lower status with respect to drugs, increasing evidence supports the notion of the beneficial effects of dietary supplements on proliferative retinopathies, a major cause of vision loss in the elderly. Therefore, we believe that, on a patient-by-patient basis, the administration of nutraceuticals, either alone or in association, could benefit many patients, delaying the progression of their disease and likely improving the efficacy of pharmaceutical drugs. Full article
(This article belongs to the Special Issue Retinopathies: A Challenge for Early Diagnosis, Innovative Treatments and Reliable Follow-Up)
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18 pages, 3135 KiB  
Brief Report
Optical Coherence Tomography (OCT): A Brief Look at the Uses and Technological Evolution of Ophthalmology
by Marco Zeppieri, Stefania Marsili, Ehimare Samuel Enaholo, Ayishetu Oshoke Shuaibu, Ngozi Uwagboe, Carlo Salati, Leopoldo Spadea and Mutali Musa
Medicina 2023, 59(12), 2114; https://doi.org/10.3390/medicina59122114 - 03 Dec 2023
Cited by 1 | Viewed by 2209
Abstract
Medical imaging is the mainstay of clinical diagnosis and management. Optical coherence tomography (OCT) is a non-invasive imaging technology that has revolutionized the field of ophthalmology. Since its introduction, OCT has undergone significant improvements in image quality, speed, and resolution, making it an [...] Read more.
Medical imaging is the mainstay of clinical diagnosis and management. Optical coherence tomography (OCT) is a non-invasive imaging technology that has revolutionized the field of ophthalmology. Since its introduction, OCT has undergone significant improvements in image quality, speed, and resolution, making it an essential diagnostic tool for various ocular pathologies. OCT has not only improved the diagnosis and management of ocular diseases but has also found applications in other fields of medicine. In this manuscript, we provide a brief overview of the history of OCT, its current uses and diagnostic capabilities to assess the posterior segment of the eye, and the evolution of this technology from time-domain (TD) to spectral-domain (SD) and swept-source (SS). This brief review will also discuss the limitations, advantages, disadvantages, and future perspectives of this technology in the field of ophthalmology. Full article
(This article belongs to the Special Issue Retinopathies: A Challenge for Early Diagnosis, Innovative Treatments and Reliable Follow-Up)
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