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Retinal Degenerative Diseases: 2nd Edition
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Retinal Degenerative Diseases: 2nd Edition

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: 20 August 2025 | Viewed by 19739

Special Issue Editors

Dr. Diego García-Ayuso

E-Mail Website
Guest Editor
1. Department of Ophthalmology, Optometry, Ears Nose and Throat, and Pathology, Faculty of Medicine, University of Murcia, 30120 Murcia, Spain
2. Biosanitary Research Institute of Murcia-Virgen de la Arrixaca (IMIB-Arrixaca), C/ Campo, 12, El Palmar, 30120 Murcia, Spain
Interests: retina; retinal degeneration; retinal diseases; retinal ganglion cells; eyes; photoreceptor cells; eye diseases; taurine; contact lenses; dry eye; myopia control; optometry
Special Issues, Collections and Topics in MDPI journals
Dr. Johnny Di Pierdomenico

E-Mail Website
Guest Editor
Department of Ophthalmology, Optometry, Ears Nose and Throat, and Pathology, Faculty of Medicine, Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca (IMIB-Virgen de la Arrixaca), University of Murcia, 30120 Murcia, Spain
Interests: retinitis pigmentosa; retinal remodeling; glaucoma; phototoxicity microglia; Müller cells; bone-marrow-derived stem cells; stem cells, neurotrophic factors: cones; retinal ganglion cells; melanopsin; contact lenses
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The retina is part of the central nervous system with unique advantages for studying neurodegeneration and neuroprotection. Because of its location within the eye, it is easily accessible for local small-dose therapies. In addition, the efficacy of the treatments can be evaluated in vivo using morphological (e.g., optical coherence tomography, OCT) and functional tests (e.g., electroretinography, ERG).

The leading causes of irreversible blindness in the world are at present photoreceptor degenerative diseases in their many forms (inherited, acquired or induced) and glaucoma. Most clinically identifiable diseases cause blindness through neuronal degeneration of photoreceptors and/or retinal pigment epithelial cells or retinal ganglion cells (RGCs) in the case of retinal degenerative diseases affecting the outer or inner retina, respectively. These diseases are, in many cases, heterogeneous and multifactorial, which complicates the identification of effective treatment, currently non-existent, and therefore represent a major burden on the health system, due to the increase in life expectancy, and also on the economy, as they often affect working-age adults. In addition, it is now widely recognized that photoreceptor degenerations cause, over time, retinal disorganization and complete retinal remodeling, culminating in the degeneration and death of RGCs, the afferent neurons of the retina, which further complicates the success of many of the therapies proposed for these diseases. In addition to retinal neuronal death, it is worth noting the role of retinal glia in the course of these diseases and, in particular, in retinal remodeling and glial seal formation.

This Special Issue aims to study retinal degenerative diseases to shed light on the events that take place in the retina during the course of these diseases, such as neuronal degeneration, glial activation, etc., as well as their possible present and future treatments.

Dr. Diego García-Ayuso
Dr. Johnny Di Pierdomenico
Guest Editors

Manuscript Submission Information

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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.

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Keywords

  • retina
  • photoreceptor degenerative diseases
  • inherited retinal degenerations
  • glaucoma
  • retinal pigment epithelial cells
  • retinal ganglion cells (RGCs)
  • neuronal degeneration
  • glial activation

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Published Papers (5 papers)

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12 pages, 4362 KiB  
Article
Quantification of Photoreceptors’ Changes in a Diabetic Retinopathy Model with Two-Photon Imaging Microscopy
by Nazario Bautista-Elivar, Marcelino Avilés-Trigueros and Juan M. Bueno
Int. J. Mol. Sci. 2024, 25(16), 8756; https://doi.org/10.3390/ijms25168756 - 11 Aug 2024
Viewed by 1424
Abstract
Emerging evidence suggests that retinal neurodegeneration is an early event in the pathogenesis of diabetic retinopathy (DR), preceding the development of microvascular abnormalities. Here, we assessed the impact of neuroinflammation on the retina of diabetic-induced rats. For this aim we have used a [...] Read more.
Emerging evidence suggests that retinal neurodegeneration is an early event in the pathogenesis of diabetic retinopathy (DR), preceding the development of microvascular abnormalities. Here, we assessed the impact of neuroinflammation on the retina of diabetic-induced rats. For this aim we have used a two-photon microscope to image the photoreceptors (PRs) at different eccentricities in unstained retinas obtained from both control (N = 4) and pathological rats (N = 4). This technique provides high-resolution images where individual PRs can be identified. Within each image, every PR was located, and its transversal area was measured and used as an objective parameter of neuroinflammation. In control samples, the size of the PRs hardly changed with retinal eccentricity. On the opposite end, diabetic retinas presented larger PR transversal sections. The ratio of PRs suffering from neuroinflammation was not uniform across the retina. Moreover, the maximum anatomical resolving power (in cycles/deg) was also calculated. This presents a double-slope pattern (from the central retina towards the periphery) in both types of specimens, although the values for diabetic retinas were significantly lower across all retinal locations. The results show that chronic retinal inflammation due to diabetes leads to an increase in PR transversal size. These changes are not uniform and depend on the retinal location. Two-photon microscopy is a useful tool to accurately characterize and quantify PR inflammatory processes and retinal alterations. Full article
(This article belongs to the Special Issue Retinal Degenerative Diseases: 2nd Edition)
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8 pages, 1171 KiB  
Communication
Retention Rates of Genetic Therapies Based on AAV Serotypes 2 and 8 Using Different Drug-Delivery Materials
by Felix F. Reichel, Peter Kiraly, Immanuel P. Seitz and M. Dominik Fischer
Int. J. Mol. Sci. 2024, 25(7), 3705; https://doi.org/10.3390/ijms25073705 - 26 Mar 2024
Viewed by 1459
Abstract
The purpose of this study was to compare the retention rate of Adeno-associated viral vector (AAV) gene therapy agents within different subretinal injection systems. The retention of AAV serotype 2-based voretigene neparvovec (VN) and a clinical-grade AAV serotype 8 vector within four different [...] Read more.
The purpose of this study was to compare the retention rate of Adeno-associated viral vector (AAV) gene therapy agents within different subretinal injection systems. The retention of AAV serotype 2-based voretigene neparvovec (VN) and a clinical-grade AAV serotype 8 vector within four different subretinal cannulas from two different manufacturers was quantified. A standardized qPCR using the universal inverted terminal repeats as a target sequence was developed. The instruments compared were the PolyTip® cannula 25 g/38 g by MedOne Surgical, Inc., Sarasota, FL, USA, and three different subretinal injection needles by DORC, Zuidland, The Netherlands (1270.EXT Extendible 41G subretinal injection needle (23G), DORC 1270.06 23G Dual bore injection cannula, DORC 27G Subretinal injection cannula). The retention rate of VN and within the DORC products (10–28%) was comparable to the retention rate (32%) found for the PolyTip® cannula that is mentioned in the FDA-approved prescribing information for VN. For the AAV8 vector, the PolyTip® cannula showed a retention rate of 14%, and a similar retention rate of 3–16% was found for the DORC products (test–retest variability: mean 4.5%, range 2.5–20.2%). As all the instruments tested showed comparable retention rates, they seem to be equally compatible with AAV2- and AAV8-based gene therapy agents. Full article
(This article belongs to the Special Issue Retinal Degenerative Diseases: 2nd Edition)
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18 pages, 5971 KiB  
Article
A Distinct Microglial Cell Population Expressing Both CD86 and CD206 Constitutes a Dominant Type and Executes Phagocytosis in Two Mouse Models of Retinal Degeneration
by Yan Zhang, Yong Soo Park and In-Beom Kim
Int. J. Mol. Sci. 2023, 24(18), 14236; https://doi.org/10.3390/ijms241814236 - 18 Sep 2023
Cited by 14 | Viewed by 3261
Abstract
Microglial cells are the key regulators of inflammation during retinal degeneration (RD) and are conventionally classified as M1 or M2. However, whether the M1/M2 classification exactly reflects the functional classification of microglial cells in the retina remains debatable. We examined the spatiotemporal changes [...] Read more.
Microglial cells are the key regulators of inflammation during retinal degeneration (RD) and are conventionally classified as M1 or M2. However, whether the M1/M2 classification exactly reflects the functional classification of microglial cells in the retina remains debatable. We examined the spatiotemporal changes of microglial cells in the blue-LED and NaIO3-induced RD mice models using M1/M2 markers and functional genes. TUNEL assay was performed to detect photoreceptor cell death, and microglial cells were labeled with anti-IBA1, P2RY12, CD86, and CD206 antibodies. FACS was used to isolate microglial cells with anti-CD206 and CD86 antibodies, and qRT-PCR was performed to evaluate Il-10, Il-6, Trem-2, Apoe, and Lyz2 expression. TUNEL-positive cells were detected in the outer nuclear layer (ONL) from 24 h to 72 h post-RD induction. At 24 h, P2RY12 was decreased and CD86 was increased, and CD86/CD206 double-labeled cells occupied the dominant population at 72 h. And CD86/CD206 double-labeled cells showed a significant increase in Apoe, Trem2, and Lyz2 levels but not in those of Il-6 and Il-10. Our results demonstrate that microglial cells in active RD cannot be classified as M1 or M2, and the majority of microglia express both CD86 and CD206, which are involved in phagocytosis rather than inflammation. Full article
(This article belongs to the Special Issue Retinal Degenerative Diseases: 2nd Edition)
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Review

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13 pages, 1291 KiB  
Review
Twenty Years of Anti-Vascular Endothelial Growth Factor Therapeutics in Neovascular Age-Related Macular Degeneration Treatment
by Bo-Hyun Moon, Younghwa Kim and Soo-Young Kim
Int. J. Mol. Sci. 2023, 24(16), 13004; https://doi.org/10.3390/ijms241613004 - 21 Aug 2023
Cited by 19 | Viewed by 12316
Abstract
Neovascular age-related macular degeneration (nAMD) is the primary disastrous retinal disease that leads to blindness in the elderly population. In the early 2000s, nAMD resulted in irreversible vision loss and blindness with no available treatment options. However, there have been breakthrough advances in [...] Read more.
Neovascular age-related macular degeneration (nAMD) is the primary disastrous retinal disease that leads to blindness in the elderly population. In the early 2000s, nAMD resulted in irreversible vision loss and blindness with no available treatment options. However, there have been breakthrough advances in the drug development of anti-angiogenic biological agents over the last two decades. The primary target molecule for treating nAMD is the vascular endothelial growth factor (VEGF), and there are currently several anti-VEGF drugs such as bevacizumab, ranibizumab, and aflibercept, which have made nAMD more manageable than before, thus preventing vision loss. Nevertheless, it should be noted that these anti-VEGF drugs for nAMD treatment are not effective in more than half of the patients, and even those who initially gain visual improvements lose their vision over time, along with potential deterioration in the geography of atrophy. As a result, there have been continuous endeavors to improve anti-VEGF agents through better efficacy, fewer doses, expanded intervals, and additional targets. This review describes past and current anti-VEGF therapeutics used to treat nAMD and outlines future directions to improve the effectiveness and safety of anti-VEGF agents. Full article
(This article belongs to the Special Issue Retinal Degenerative Diseases: 2nd Edition)
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Other

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11 pages, 4233 KiB  
Case Report
Expanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype–Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure
by Ana Catalina Rodriguez-Martinez, Oliver R. Marmoy, Katrina L. Prise, Robert H. Henderson, Dorothy A. Thompson and Mariya Moosajee
Int. J. Mol. Sci. 2025, 26(7), 2836; https://doi.org/10.3390/ijms26072836 - 21 Mar 2025
Viewed by 313
Abstract
Biallelic pathogenic variants in the CRB1 gene are associated with severe retinal dystrophies, including early onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone–rod dystrophy (CORD), and macular dystrophy (MD). Despite growing research, scant genotype–phenotype correlations have been established. Here, we [...] Read more.
Biallelic pathogenic variants in the CRB1 gene are associated with severe retinal dystrophies, including early onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone–rod dystrophy (CORD), and macular dystrophy (MD). Despite growing research, scant genotype–phenotype correlations have been established. Here, we present two cases involving individuals that presented with cystoid macular oedema and high intraocular pressure, which were later diagnosed as CRB1-MD, demonstrating a mild and stable phenotype. Two unrelated patients of African heritage were included, a 7-year-old female (case 1) and a 25-year-old female (case 2), both presenting with ocular hypertension and cystoid macular oedema. Case 2 had a history of bilateral plateau iris, treated with laser iridotomy. Baseline visual acuity for case 1 was 0.66 logMAR in the right eye and 0.54 logMAR in the left eye. For case 2, visual acuity was recorded as 0.30 logMAR in both eyes. Genetic testing confirmed a homozygous c.2506C>A p.(Pro836Thr) variant in the CRB1 gene in both cases. Longitudinal follow-up over seven years revealed stable visual acuity, improvement of cystoid macular oedema, and effective intraocular pressure control with topical ocular hypotensive therapy. This study establishes a novel genotype–phenotype correlation between the c.2506C>A p.(Pro836Thr) variant and MD, suggesting a mild, stable disease course in homozygous cases. The findings also highlight a potential association of this variant with elevated IOP, expanding the clinical spectrum of CRB1-related ocular conditions. Early genetic diagnosis and regular ophthalmic monitoring are essential to optimise management and identify therapeutic opportunities in patients with mild CRB1-related phenotypes. Full article
(This article belongs to the Special Issue Retinal Degenerative Diseases: 2nd Edition)
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