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Biomedicines
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Emerging Issues in Retinal Degeneration
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Emerging Issues in Retinal Degeneration

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 5208

Special Issue Editor

Dr. Ponarulselvam Sekar

E-Mail Website
Guest Editor
Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany
Interests: neuroretina pathologies; ocular oncology; purinergic signaling; mitochondrial dynamics in retina

Special Issue Information

Dear Colleagues,

Retinal degeneration includes a spectrum of progressive eye diseases such as age-related macular degeneration (AMD), retinitis pigmentosa (RP) and diabetic retinopathy, all of which can result in significant vision loss or blindness. As the global population ages and diabetes becomes more prevalent, these conditions are emerging as critical public health challenges. This Special Issue is dedicated to showcasing the latest advancements and addressing new challenges in the study of retinal degeneration.

We encourage researchers and clinicians to submit original research papers, reviews and case reports that delve into innovative diagnostic techniques, cutting-edge therapeutic strategies and the fundamental molecular pathways involved in retinal degeneration. The areas of interest encompass gene therapy, stem cell therapy, retinal implants and new pharmacological treatments. We also welcome contributions that examine the effects of lifestyle and environmental factors on disease progression, the identification of predictive biomarkers and enhancements in imaging technology.

The aim of this Special Issue is to present a thorough overview of contemporary trends and future directions in retinal degeneration research. By promoting interdisciplinary collaboration and the exchange of knowledge, we strive to enhance our understanding and treatment of these debilitating diseases, thereby improving the outcomes and quality of life for patients.

Dr. Ponarulselvam Sekar
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. Biomedicines 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

  • retinal degeneration
  • age-related macular degeneration (AMD)
  • retinitis pigmentosa (RP)
  • diabetic retinopathy
  • gene therapy
  • stem cell therapy
  • retinal implants
  • pharmacological treatments
  • diagnostic methods
  • molecular mechanisms
  • predictive biomarkers
  • imaging technologies
  • signaling pathways
  • oxidative stress
  • neuroprotection

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Published Papers (5 papers)

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Research

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11 pages, 411 KiB  
Article
HD-OCT Angiography and SD-OCT in Patients with Mild or No Clinically Apparent Diabetic Retinopathy
by Maja Vinković, Andrijana Kopić, Tvrtka Benašić, Dubravka Biuk, Ivanka Maduna and Stela Vujosevic
Biomedicines 2025, 13(5), 1251; https://doi.org/10.3390/biomedicines13051251 - 20 May 2025
Viewed by 141
Abstract
Purpose: To analyze the retinal and choriocapillaris changes in diabetic patients with no or with early signs of diabetic retinopathy using high-definition (HD) angio optical coherence tomography angiography (OCTA) software and spectral-domain (SD) OCT. Methods: A total of 112 eyes (54 eyes from [...] Read more.
Purpose: To analyze the retinal and choriocapillaris changes in diabetic patients with no or with early signs of diabetic retinopathy using high-definition (HD) angio optical coherence tomography angiography (OCTA) software and spectral-domain (SD) OCT. Methods: A total of 112 eyes (54 eyes from 27 diabetic patients and 58 eyes from 29 control subjects) were included in this retrospective cross-sectional study of healthy and diabetic adults. Retinal microvascular changes were assessed by using HD-OCTA software to calculate vascular density (VD) and foveal avascular zone (FAZ). SD-OCT was used to assess retinal thickness and volume in parafovea as well as ganglion cell complex (GCC) parameters. Results: The VD-whole image was significantly higher in the healthy control group (MW z = 1109.5, p = 0.012; t = 2.611, p = 0.010). Also, VD-parafovea was significantly higher in the healthy subjects (MW z = 1053.5, p = 0.004; t = 3.207, p = 0.002). GCC focal loss volume (FLV) was significantly decreased in diabetic patients (p = 0.051). Non-flow FAZ did not show a statistically significant difference between groups, although the FAZ was larger in the diabetic patients. Conclusions: Diabetic patients with no or early signs of diabetic retinopathy have decreased VD compared to healthy individuals. They also present retinal changes at the GCC that are correlated with initial neurodegeneration. HD-OCTA and SD-OCT can detect vascular changes and structural signs of retinal neurodegeneration before clinically apparent diabetic retinopathy. Potentially, these methods may offer new biomarkers for monitoring disease progression and visual prognosis. Full article
(This article belongs to the Special Issue Emerging Issues in Retinal Degeneration)
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10 pages, 719 KiB  
Article
Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy
by Konstantinos Flindris, Vivian Lagkada, Aikaterini Christodoulou, Maria Gazouli, Marilita Moschos, Georgios Markozannes and George Kitsos
Biomedicines 2025, 13(2), 341; https://doi.org/10.3390/biomedicines13020341 - 3 Feb 2025
Viewed by 736
Abstract
Background and Objectives: Recent studies have shed light on the association between genetic factors and diabetic retinopathy (DR) onset and progression. The purpose of our study was to investigate the association between rs4885322 single-nucleotide polymorphism (SNP) of the UCHL3 gene and rs11558538 SNP [...] Read more.
Background and Objectives: Recent studies have shed light on the association between genetic factors and diabetic retinopathy (DR) onset and progression. The purpose of our study was to investigate the association between rs4885322 single-nucleotide polymorphism (SNP) of the UCHL3 gene and rs11558538 SNP of the HNMT gene with the risk of DR in Greek patients with type 2 diabetes mellitus (T2DM). Materials and Methods: In our case–control study, we included 85 T2DM patients with DR and 71 T2DM patients without DR (NDR), matched by ethnicity and gender. Demographic and clinical data of all patients were collected, and then patients went through a complete ophthalmological examination and were genotyped for rs4885322 SNP of UCHL3 gene and for the rs11558538 SNP of HNMT gene. Statistical analysis was implemented by STATA v.16.1. Results: No significant differences in demographic and clinical data were observed between the DR and the NDR group (p-value ≥ 0.05), except for the lower mean of age, longer duration of DM, more frequent use of insulin therapy, and higher levels of hemoglobin A1c (HbA1c) in the DR group. The allelic effect of rs488532 increases the risk of DR by 2.04 times, and in the dominant genetic model, the risk of DR is elevated by 123%, while both associations are statistically significant (p-value < 0.05). Moreover, the allelic effect of rs11558538 is associated with a 3.27 times increased DR risk and, in the dominant genetic model, reveals an augmented risk of DR by 231%, while both associations are also statistically significant (p-value < 0.05). Conclusions: The rs4885322 SNP of the UCHL3 gene and the rs11558538 SNP of the HNMT gene are associated with DR risk in Greek patients with T2DM. However, further studies with larger samples and different ethnicities should be implemented to clarify the exact association of these SNPs and DR onset. Full article
(This article belongs to the Special Issue Emerging Issues in Retinal Degeneration)
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15 pages, 8206 KiB  
Article
Fundus Image Deep Learning Study to Explore the Association of Retinal Morphology with Age-Related Macular Degeneration Polygenic Risk Score
by Adam Sendecki, Daniel Ledwoń, Aleksandra Tuszy, Julia Nycz, Anna Wąsowska, Anna Boguszewska-Chachulska, Andrzej W. Mitas, Edward Wylęgała and Sławomir Teper
Biomedicines 2024, 12(9), 2092; https://doi.org/10.3390/biomedicines12092092 - 13 Sep 2024
Viewed by 1503
Abstract
Background: Age-related macular degeneration (AMD) is a complex eye disorder with an environmental and genetic origin, affecting millions worldwide. The study aims to explore the association between retinal morphology and the polygenic risk score (PRS) for AMD using fundus images and deep learning [...] Read more.
Background: Age-related macular degeneration (AMD) is a complex eye disorder with an environmental and genetic origin, affecting millions worldwide. The study aims to explore the association between retinal morphology and the polygenic risk score (PRS) for AMD using fundus images and deep learning techniques. Methods: The study used and pre-processed 23,654 fundus images from 332 subjects (235 patients with AMD and 97 controls), ultimately selecting 558 high-quality images for analysis. The fine-tuned DenseNet121 deep learning model was employed to estimate PRS from single fundus images. After training, deep features were extracted, fused, and used in machine learning regression models to estimate PRS for each subject. The Grad-CAM technique was applied to examine the relationship between areas of increased model activity and the retina’s morphological features specific to AMD. Results: Using the hybrid approach improved the results obtained by DenseNet121 in 5-fold cross-validation. The final evaluation metrics for all predictions from the best model from each fold are MAE = 0.74, MSE = 0.85, RMSE = 0.92, R2 = 0.18, MAPE = 2.41. Grad-CAM heatmap evaluation showed that the model decisions rely on lesion area, focusing mostly on the presence of drusen. The proposed approach was also shown to be sensitive to artifacts present in the image. Conclusions: The findings indicate an association between fundus images and AMD PRS, suggesting that deep learning models may effectively estimate genetic risk for AMD from retinal images, potentially aiding in early detection and personalized treatment strategies. Full article
(This article belongs to the Special Issue Emerging Issues in Retinal Degeneration)
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Review

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16 pages, 793 KiB  
Review
Diabetes-Driven Retinal Neurodegeneration: Its Role in the Pathogenesis of Diabetic Retinopathy
by Ilaria Viganò, Silvia Galbiati, Emanuela Aragona, Daniela Gabellini, Rosangela Lattanzio, Vittoria Pedon, Giulia Basile, Alessandro Arrigo, Francesco Bandello and Gianpaolo Zerbini
Biomedicines 2025, 13(6), 1328; https://doi.org/10.3390/biomedicines13061328 - 29 May 2025
Abstract
Diabetic retinopathy is a complication of diabetes characterized by an extremely low rate of progression. It takes several years to move from the onset of diabetes, both type 1 and type 2, to the development of retinal microaneurysms, then leading to proliferative diabetic [...] Read more.
Diabetic retinopathy is a complication of diabetes characterized by an extremely low rate of progression. It takes several years to move from the onset of diabetes, both type 1 and type 2, to the development of retinal microaneurysms, then leading to proliferative diabetic retinopathy and vision loss. The recent demonstration that retinal microaneurysms are preceded and, possibly, caused by a subclinical neurodegeneration mainly affecting the neurovascular unit has suggested, on one hand, the possible existence of a previously unknown early neurodegenerative stage of diabetic retinopathy and, on the other, that an early “neuroprotective” treatment could end up preventing the development of the microvascular stages. This review summarizes the present situation in the field and focuses on the prevention of diabetic retinopathy, which seems, for the first time, to be within reach. Full article
(This article belongs to the Special Issue Emerging Issues in Retinal Degeneration)
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30 pages, 2393 KiB  
Review
Looking to the Future of Viral Vectors in Ocular Gene Therapy: Clinical Review
by Chulpan B. Kharisova, Kristina V. Kitaeva, Valeriya V. Solovyeva, Albert A. Sufianov, Galina Z. Sufianova, Rustem F. Akhmetshin, Sofia N. Bulgar and Albert A. Rizvanov
Biomedicines 2025, 13(2), 365; https://doi.org/10.3390/biomedicines13020365 - 5 Feb 2025
Viewed by 2033
Abstract
Eye diseases can significantly affect the quality of life of patients due to decreased visual acuity. Although modern ophthalmological diagnostic methods exist, some diseases of the visual system are asymptomatic in the early stages. Most patients seek advice from an ophthalmologist as a [...] Read more.
Eye diseases can significantly affect the quality of life of patients due to decreased visual acuity. Although modern ophthalmological diagnostic methods exist, some diseases of the visual system are asymptomatic in the early stages. Most patients seek advice from an ophthalmologist as a result of rapidly progressive manifestation of symptoms. A number of inherited and acquired eye diseases have only supportive treatment without eliminating the etiologic factor. A promising solution to this problem may be gene therapy, which has proven efficacy and safety shown in a number of clinical studies. By directly altering or replacing defective genes, this therapeutic approach will stop as well as reverse the progression of eye diseases. This review examines the concept of gene therapy and its application in the field of ocular pathologies, emphasizing the most recent scientific advances and their potential impacts on visual function status. Full article
(This article belongs to the Special Issue Emerging Issues in Retinal Degeneration)
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