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Biomedicines
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Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives
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Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (31 May 2025) | Viewed by 2041

Special Issue Editors

Dr. Irini P. Chatziralli

E-Mail Website
Guest Editor
2nd Department of Ophthalmology, National and Kapodistrian University of Athens, Attikon University Hospital, Athens, Greece
Interests: diabetic retinopathy; retinal imaging; retinal vein occlusion
Dr. Konstantinos Pappelis

E-Mail Website
Guest Editor
Medical School, National and Kapodistrian University of Athens, University General Hospital “Attikon”, Chaidari, Greece
Interests: glaucoma; ocular circulation physiology; ophthalmic imaging

Special Issue Information

Dear Colleagues,

In recent years, the introduction of new imaging modalities for retinal diseases, the application of artificial intelligence and the improvement of our understanding of the pathogenesis and molecular basis of retinal diseases has led to great advances in medical retina. All these aspects have been used to develop new treatment modalities and algorithms, so as to enhance the use of personalized treatment models.

This Special Issue will bring together the latest research evidence on the pathogenesis, diagnosis, and treatment of retinal diseases, with more emphasis placed on common ones, such as age-related macular degeneration, diabetic retinopathy, retinal vascular occlusions, pachychoroid spectrum diseases, pathologic myopia, and choroidal neovascularization. Thus, we request high-quality submissions of original research and review articles on these topics.

Dr. Irini P. Chatziralli
Dr. Konstantinos Pappelis
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. 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

  • age-related macular degeneration
  • central serous chorioretinopathy
  • pachychoroid spectrum
  • choroidal neovascularization
  • diabetic retinopathy
  • retinal vein occlusion
  • retinal artery occlusion
  • sickle cell retinopathy
  • optical coherence tomography
  • OCT angiography
  • widefield imaging
  • anti-VEGF agents

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Published Papers (5 papers)

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16 pages, 2784 KiB  
Article
Retinal Vessel Flicker Light Responsiveness and Its Relation to Analysis Protocols and Static and Metabolic Data in Healthy Subjects
by Dmitri Artemiev, Christophe Valmaggia, Scott Tschuppert, Konstantin Kotliar, Cengiz Türksever and Margarita G. Todorova
Biomedicines 2025, 13(5), 1201; https://doi.org/10.3390/biomedicines13051201 - 15 May 2025
Viewed by 305
Abstract
Background: The aim of this study was to assess the agreement between different analysis protocols for the determination of retinal vessel dilation response to flicker light (FL) and its relation to static and metabolic parameters of retinal vessels in healthy subjects. Methods: [...] Read more.
Background: The aim of this study was to assess the agreement between different analysis protocols for the determination of retinal vessel dilation response to flicker light (FL) and its relation to static and metabolic parameters of retinal vessels in healthy subjects. Methods: In total, 24 right eyes of 24 healthy controls (mean age: 36.04 ± SD 14.4 years) who underwent dynamic and static retinal diameter and oxygen saturation measurements on a Retinal Vessel Analyzer (RVA, Imedos, Jena, Germany) were included. Using repeated video analyses, responses to FL were measured with RVA. These measurements were conducted at three specific retinal locations: within the superotemporal area—within a distance of less than one optic disk (OD) diameter to optic nerve head (ONH) (group 1); greater than one OD diameter to ONH (group 2); and areas near the ONH within the VesselMap region (group 3). For comparability, the static and oxygen saturation parameters were also calculated in the superotemporal peripapillary area using the VesselMap tool of the RVA and were evaluated in relation to the corresponding dynamic area (group 3). Results: In all groups, the vascular FL response of arteries was less pronounced compared to venules (p = 0.0014). Even though FL responses (mean ± SD: FL-A; FL-V) in group 1 were more pronounced (3.36 ± 2.31; 4.42 ± 1.69) compared to those in group 2 (2.97 ± 2.40; 4.08 ± 1.55) and group 3 (2.84 ± 2.29; 4.21 ± 2.03), they did not reach statistically significant values. The mean flicker response of venules (VDil) in all groups showed negative correlations to the corresponding static parameter: central retinal venous equivalent (CRV) (r = −0.0437; p = 0.015). The mean flicker response of arteries (ADil) in all groups showed negative correlations to the corresponding metabolic parameter: arterio-venous oxygen extraction fraction (r = −0.101; p = 0.041). Conclusions: Our study confirms that the flicker light response, despite slight variations in its duration and location, allows for reliable measurements, proving the Retinal Vessel Analyzer to be a valuable diagnostic tool. Furthermore, we were able to highlight the relationship between the dynamic and metabolic components of retinal supply, which enables early diagnosis concerning the development of diseases within this spectrum. Full article
(This article belongs to the Special Issue Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives)
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13 pages, 601 KiB  
Article
Early Renal Dysfunction and Reduced Retinal Vascular Density Assessed by Angio-OCT in Hypertensive Patients
by Caterina Carollo, Maria Vadalà, Alessandra Sorce, Emanuele Cirafici, Miriam Bennici, Massimo Castellucci, Vincenza Maria Elena Bonfiglio, Giuseppe Mulè and Giulio Geraci
Biomedicines 2025, 13(5), 1176; https://doi.org/10.3390/biomedicines13051176 - 12 May 2025
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Abstract
Background: The eye and kidney share embryological, structural, and pathophysiological similarities, suggesting potential interconnections between retinal and renal microvascular changes. Hypertension, a major risk factor for renal impairment, also affects retinal microvasculature. This study investigates the relationship between retinal vascular density, assessed by [...] Read more.
Background: The eye and kidney share embryological, structural, and pathophysiological similarities, suggesting potential interconnections between retinal and renal microvascular changes. Hypertension, a major risk factor for renal impairment, also affects retinal microvasculature. This study investigates the relationship between retinal vascular density, assessed by Optical Coherence Tomography Angiography (OCT-A), and early renal dysfunction in hypertensive patients. Methods: A total of 142 hypertensive patients (mean age 47 ± 13 years; 74% male) were enrolled from the Nephrology and Hypertension Unit at the University of Palermo. Retinal vascular density was measured using OCT-A, and renal function was assessed using estimated glomerular filtration rate (eGFR). Clinical and hemodynamic parameters, including 24-h aortic blood pressure, were also analyzed. Results: Patients with eGFR < 60 mL/min/1.73 m2 exhibited significantly lower retinal vascular densities, particularly in the parafoveal region. Superficial parafoveal density was inversely associated with aortic pulse pressure (p = 0.012) and directly correlated with eGFR (p = 0.012). Deep parafoveal density was independently associated with eGFR (p = 0.001). Multiple linear regression confirmed that lower retinal vascular density was significantly linked to reduced renal function, independent of age and blood pressure. Conclusions: Retinal vascular density, particularly in the parafoveal region, is associated with renal function decline in hypertensive patients. These findings suggest that retinal microvascular changes could serve as a non-invasive biomarker for kidney dysfunction, with potential applications in early risk stratification and disease monitoring. Further research is needed to establish causality and clinical utility. Full article
(This article belongs to the Special Issue Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives)
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15 pages, 1162 KiB  
Article
Correlation Analysis of Macular Function and Peripapillary Retinal Nerve Fiber Layer Thickness Following Successful Rhegmatogenous Retinal Detachment Surgery
by María D. Díaz-Barreda, Ana Boned-Murillo, Isabel Bartolomé-Sesé, María Sopeña-Pinilla, Elvira Orduna-Hospital, Guisela Fernández-Espinosa and Isabel Pinilla
Biomedicines 2025, 13(4), 943; https://doi.org/10.3390/biomedicines13040943 - 11 Apr 2025
Viewed by 340
Abstract
Objectives: In this study, the objective was to assess the correlation between macular function and peripapillary retinal nerve fiber layer (pRNFL) thickness following successful rhegmatogenous retinal detachment (RRD) surgery, as well as the subsequent recovery of visual acuity. Methods: This was a [...] Read more.
Objectives: In this study, the objective was to assess the correlation between macular function and peripapillary retinal nerve fiber layer (pRNFL) thickness following successful rhegmatogenous retinal detachment (RRD) surgery, as well as the subsequent recovery of visual acuity. Methods: This was a cross-sectional study including 64 eyes from patients with RRD who underwent successful treatment with 23G pars plana vitrectomy (PPV), endophotocoagulation and sulfur-hexafluoride (SF6) were included and compared to a control group consisting of 136 healthy eyes. A complete ophthalmological examination was performed on all participants, including assessment of macular sensitivity using macular integrity assessment (MAIA) microperimetry and pRNFL thickness using DRI-Triton swept-source (SS)–optical coherence tomography (OCT). Results: In the RRD group, retinal sensitivity was decreased. The temporal (T) sector of the total retina (TR) protocol was thicker, while the superior (S) and inferior (I) sectors of the pRNFL protocol were thinner. Within the RRD group, positive correlations were observed between the nasal (N), I sectors and total thickness of TR protocol and MAIA inferior outer (IO) sector; the I sector and total thickness of the TR protocol and MAIA inferior inner (II) sector; the I sector of the pRNFL protocol and MAIA IO sector. Negative correlations were shown between the S, T sectors and total thickness of the pRNFL protocol and MAIA central (C) sector; the N sector and total thickness of the pRNFL protocol and MAIA central temporal (CT) sector. Conclusions: RRD leads to a decrease in pRNFL thickness accompanied by reduced macular sensitivity. These changes may be attributed to factors such as the specific location of the RRD, the distribution pattern of the RNFL and the chosen surgical approach. Full article
(This article belongs to the Special Issue Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives)
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16 pages, 1870 KiB  
Article
Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography
by Bethany E. Higgins, Ana Catalina Rodriguez-Martinez, Giovanni Montesano, Vijay K. Tailor-Hamblin, Samantha Malka, Robert H. Henderson and Mariya Moosajee
Biomedicines 2025, 13(3), 555; https://doi.org/10.3390/biomedicines13030555 - 21 Feb 2025
Viewed by 557
Abstract
Background: A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with CRB1-associated retinopathies: macular dystrophy (MD), cone-rod dystrophy (CORD), and early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA). The study aimed to evaluate CRB1-associated retinopathies using microperimetry (macular integrity [...] Read more.
Background: A cross-sectional study was conducted at Moorfields Eye Hospital, UK, involving patients with CRB1-associated retinopathies: macular dystrophy (MD), cone-rod dystrophy (CORD), and early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA). The study aimed to evaluate CRB1-associated retinopathies using microperimetry (macular integrity assessment (S-MAIA) fast protocol) and spectral domain optical coherence tomography (SD-OCT). Methods: Data quality and participant attrition were assessed in 18 patients (10 MD, 5 EOSRD/LCA, 3 CORD), aged 10–52 years, with a median best corrected visual acuity (BCVA) of 0.41 logMAR. Results: Microperimetry and SD-OCT data were obtained from 14 and 18 patients, respectively, but eccentric fixation hindered structure-function analysis. All participants showed overall abnormal sensitivity on the S-MAIA fast protocol. Parafoveal volume was significantly increased, while foveal thickness and volume were reduced compared to normative data (p < 0.01). Conclusions: This study highlights the challenges of participant attrition and the need for alternative functional metrics to complement traditional evaluations. It also reinforces previous findings of abnormal retinal architecture in CRB1-associated retinopathies, providing further insights into S-MAIA and SD-OCT assessments for this patient population. Full article
(This article belongs to the Special Issue Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives)
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12 pages, 4039 KiB  
Case Report
Structural, Functional, and Cellular Analysis of a Case of Acute Zonal Occult Outer Retinopathy (AZOOR)
by Mattia Iuliano, Marco Lombardo, Benedetto Falsini, Jacopo Sebastiani, Michele D’Ambrosio, Francesco Martelli and Andrea Cusumano
Biomedicines 2025, 13(7), 1521; https://doi.org/10.3390/biomedicines13071521 - 21 Jun 2025
Viewed by 121
Abstract
Background: Adaptive optics transscleral flood illumination (AO-TFI) enables in vivo, non-invasive, high-resolution imaging of retinal pigment epithelium (RPE) and photoreceptor (PR) cells, paving the way for a new potential characterization of retinal diseases. This study aimed to analyze RPE and PR cells in [...] Read more.
Background: Adaptive optics transscleral flood illumination (AO-TFI) enables in vivo, non-invasive, high-resolution imaging of retinal pigment epithelium (RPE) and photoreceptor (PR) cells, paving the way for a new potential characterization of retinal diseases. This study aimed to analyze RPE and PR cells in a case of acute zonal occult outer retinopathy (AZOOR) using AO-TFI. Methods: A patient affected by AZOOR underwent a comprehensive eye examination, perimetry, electroretinography (ERG), autofluorescence, and optical coherence tomography (OCT) during the acute phase (T0). After three years (T1), OCT angiography (OCTA) and AO-TFI were also performed. Voronoi analysis was utilized to quantify RPE and PR cells. Results: At T0, OCT revealed interruptions in the ellipsoid zone (EZ) of the right eye, while the structure of the left eye appeared normal. Perimetry and ERG were abnormal in both eyes. At T1, OCT indicated recovery of the EZ in the right eye, while thinning of the ONL persisted. Perimetry and mfERG values remained below normative limits. OCTA exhibited globally reduced vessel density in the inner retina of the right eye. AO-TFI demonstrated reduced PR density in affected areas despite preserved EZ, while RPE cell density appeared unaffected. Conclusion: AO-TFI enabled a detailed visualization and quantification of macular RPE and PR cells, providing valuable insights into the pathophysiology of AZOOR. Full article
(This article belongs to the Special Issue Retinal Diseases: Pathogenetic, Diagnostic and Therapeutic Perspectives)
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