Updates on the Diagnosis and Management of Retinal Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 30 April 2025 | Viewed by 5353

Special Issue Editor


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Guest Editor
New England Eye Center, Boston, MA, USA
Interests: retinal diseases

Special Issue Information

Dear Colleagues,

The field of ophthalmology has witnessed monumental advancements in the year 2023, marking it as a pivotal period in the evolution of retinal disease diagnosis and management. In February, a significant milestone was achieved with the Food and Drug Administration (FDA)’s approval of pegcetacoplan, a pioneering therapeutic agent for the treatment of geographic atrophy. This approval, following decades of diligent research and clinical trials, symbolizes a promising horizon in the battle against advanced dry age-related macular degeneration. The path of innovation continued undeterred into September, when the prestigious 2023 Lasker–DeBakey Clinical Medical Research Award was awarded to a trio of visionaries for their seminal invention of optical coherence tomography (OCT). This invention has not only advanced ophthalmic diagnostics but has reshaped the landscape of retinal disease care. OCT, now an indispensable tool in retina clinics, has caused a paradigm shift, facilitating earlier and more accurate diagnoses, thus enabling timely and targeted interventions in managing a variety of retinal diseases, including diabetic retinopathy and age-related macular degeneration (AMD).

This Special Issue will feature the latest developments and challenges in the diagnosis and management of retinal diseases. The topics covered in this issue include, but are not limited to, the following:

  • The application of OCT and OCT angiography for the screening, diagnosis, and monitoring of retinal diseases.
  • The advances in the treatment of retinal diseases, including wet and dry AMD, diabetic retinopathy, and inherited retinal diseases.

We invite original research articles and reviews that highlight the current state of the art and future directions in the field of retinal diagnostics. We hope that this Special Issue will provide a valuable resource for clinicians, researchers, and patients interested in retinal diseases.

Dr. Antonio Yaghy
Guest Editor

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Keywords

  • optical coherence tomography (OCT)
  • optical coherence tomography angiography (OCTA)
  • wide-field imaging
  • retinal diseases
  • age-related macular degeneration
  • diabetic retinopathy
  • inherited retinal diseases
  • medical diagnosis
  • clinical trials

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Published Papers (6 papers)

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Research

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8 pages, 220 KiB  
Article
Prevalence of Diabetic Retinopathy Among Diabetic Patients from Northeastern Bulgaria
by Zornitsa Zlatarova, Elitsa Hristova, Kristina Bliznakova, Virginia Atanasova, Zhaneta Yaneva, Darina Koseva, Lidiya Zaduryan, Gabriela Vasileva, Daliya Stefanova and Klara Dokova
Diagnostics 2024, 14(20), 2340; https://doi.org/10.3390/diagnostics14202340 - 21 Oct 2024
Viewed by 437
Abstract
Background: Diabetic retinopathy (DR) is a leading cause of visual impairment globally among working-aged individuals. This study aims to update data on DR prevalence in Bulgaria. Methods: The present cross-sectional study was conducted between 1 January 2022 and 1 January 2023, using a [...] Read more.
Background: Diabetic retinopathy (DR) is a leading cause of visual impairment globally among working-aged individuals. This study aims to update data on DR prevalence in Bulgaria. Methods: The present cross-sectional study was conducted between 1 January 2022 and 1 January 2023, using a local diabetes registry from the city of Varna as a sampling framework. In total, 587 diabetic patients underwent DR examination. Data included demographics, diabetes type/duration, treatment, and ophthalmic history. DR status was assessed using indirect slit-lamp biomicroscopy or digital fundus photography, graded by the International Clinical Diabetic Retinopathy Scale. Results: Of 587 participants, 13 were excluded due to cataract-related ungradable images. The median age was 65 years (IQR 56–73), with a slight female predominance (54%). The overall prevalence of any DR was 39.9% (95% CI 35.9–44.0), with non-proliferative DR (NPDR) at 27.5%, proliferative DR (PDR) at 7.3%, and macular edema (DME) at 5%. Type 1 diabetes patients had significantly higher DR prevalence (68.8%) than type 2 (34.1%, p < 0.001). Men exhibited higher DR prevalence. Age and diabetes duration correlated positively with DR prevalence. Insulin treatment was associated with higher DR prevalence (55.6%) than oral antidiabetic treatment (22.5%, p < 0.001) for type 2 diabetes patients. Among those diagnosed with DR, 70.9% received treatment, mainly laser therapy. Conclusions: These findings provide epidemiological insights for future research and emphasize the need for a comprehensive national DR screening program in Bulgaria. Technological advancements enable proactive measures to mitigate DR-related visual impairment and blindness, including widespread screening, even in rural areas. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
10 pages, 1108 KiB  
Article
Characterizing Vascular Wall and Lumen Caliber in Eyes with Diabetic Retinopathy Based on Adaptive Optics Scanning Laser Ophthalmoscopy
by Konstantina Sampani, Mircea Mujat, Ankit H. Patel, Chaerim Kang, Nicusor Iftimia, Irini Chatziralli and Jennifer K. Sun
Diagnostics 2024, 14(18), 2020; https://doi.org/10.3390/diagnostics14182020 - 12 Sep 2024
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Abstract
(200/200) Purpose: Our aim was to evaluate structural alterations of retinal arterioles due to type 1 diabetes (T1D) and/or diabetic retinopathy (DR) under AOSLO imaging. Methods: Each study eye underwent mydriasis and AOSLO imaging in a single-visit study. The instrument’s arrangement of four [...] Read more.
(200/200) Purpose: Our aim was to evaluate structural alterations of retinal arterioles due to type 1 diabetes (T1D) and/or diabetic retinopathy (DR) under AOSLO imaging. Methods: Each study eye underwent mydriasis and AOSLO imaging in a single-visit study. The instrument’s arrangement of four offset aperture images provided two orthogonal split-detector images and enabled isotropic analysis of the arteriolar boundaries. For each arteriole, we calculated the wall-to-lumen ratio (WLR), mean wall thickness, and luminal and external diameters. Results: In total, we enrolled 5 (20.8%) healthy control eyes and 19 eyes of patients with T1D. The DR distribution was: four (16.7%) no-DR, nine (37.5%%) mild or moderate nonproliferative DR (NPDR), and six (25%) severe NPDR or proliferative DR. Mean wall thickness increased significantly in eyes with T1D compared to healthy controls (p = 0.0006) and in eyes with more advanced DR (p = 0.0004). The WLR was significantly higher in eyes with T1D (p = 0.002) or more severe DR (p = 0.004). There was no significant relationship between T1D status or DR severity and any of the arteriolar diameters. Conclusions: In this preliminary study, there appeared to be increases in the WLR and mean wall thickness in eyes with T1D and more severe DR than in the controls and eyes with no/less severe DR. Future studies may further elucidate the relationship between the retinal arteriolar structure and physiologic alterations in DR. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
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Review

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29 pages, 457 KiB  
Review
Integrated Assessment of OCT, Multimodal Imaging, and Cytokine Markers for Predicting Treatment Responses in Retinal Vein Occlusion Associated Macular Edema: A Comparative Review of Anti-VEGF and Steroid Therapies
by Marion R. Munk, Lala Ceklic, Richard Stillenmunkes, Varun Chaudhary, Nadia Waheed, Jay Chhablani, Marc D. de Smet and Anne Tillmann
Diagnostics 2024, 14(17), 1983; https://doi.org/10.3390/diagnostics14171983 - 7 Sep 2024
Viewed by 919
Abstract
Retinal vein occlusion (RVO) is a significant cause of vision loss, characterized by the occlusion of retinal veins, leading to conditions such as central retinal vein occlusion (CRVO) and branch retinal vein occlusion (BRVO). Macular edema (ME), a prevalent consequence of RVO, is [...] Read more.
Retinal vein occlusion (RVO) is a significant cause of vision loss, characterized by the occlusion of retinal veins, leading to conditions such as central retinal vein occlusion (CRVO) and branch retinal vein occlusion (BRVO). Macular edema (ME), a prevalent consequence of RVO, is the primary cause of vision impairment in affected patients. Anti-VEGF agents have become the standard treatment, showing efficacy in improving visual acuity (VA) and reducing ME. However, a subset of patients exhibit a suboptimal response to anti-VEGF therapy, necessitating alternative treatments. Corticosteroids, which address inflammatory pathways implicated in ME, have shown promise, particularly in cases resistant to anti-VEGF. This review aims to identify biomarkers that predict treatment response to corticosteroids in RVO-associated ME, utilizing multimodal imaging and cytokine assessments. Baseline imaging, including SD-OCT and OCT-A, is essential for evaluating biomarkers like hyperreflective foci (HRF), serous retinal detachment (SRF), and central retinal thickness (CRT). Elevated cytokine levels, such as IL-6 and MCP-1, correlate with ME severity and poor anti-VEGF response. Early identification of these biomarkers can guide timely transitions to corticosteroid therapy, potentially enhancing treatment outcomes. The practical conclusion of this review is that integrating biomarker assessment into clinical practice enables personalized treatment decisions, allowing for earlier and more effective management of RVO-associated ME by transitioning patients to corticosteroid therapy when anti-VEGF agents are insufficient. Advanced diagnostics and machine learning may further refine personalized treatment strategies, improving the management of RVO-associated ME. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
18 pages, 919 KiB  
Review
Exploring Publicly Accessible Optical Coherence Tomography Datasets: A Comprehensive Overview
by Anastasiia Rozhyna, Gábor Márk Somfai, Manfredo Atzori, Delia Cabrera DeBuc, Amr Saad, Jay Zoellin and Henning Müller
Diagnostics 2024, 14(15), 1668; https://doi.org/10.3390/diagnostics14151668 - 1 Aug 2024
Viewed by 1329
Abstract
Artificial intelligence has transformed medical diagnostic capabilities, particularly through medical image analysis. AI algorithms perform well in detecting abnormalities with a strong performance, enabling computer-aided diagnosis by analyzing the extensive amounts of patient data. The data serve as a foundation upon which algorithms [...] Read more.
Artificial intelligence has transformed medical diagnostic capabilities, particularly through medical image analysis. AI algorithms perform well in detecting abnormalities with a strong performance, enabling computer-aided diagnosis by analyzing the extensive amounts of patient data. The data serve as a foundation upon which algorithms learn and make predictions. Thus, the importance of data cannot be underestimated, and clinically corresponding datasets are required. Many researchers face a lack of medical data due to limited access, privacy concerns, or the absence of available annotations. One of the most widely used diagnostic tools in ophthalmology is Optical Coherence Tomography (OCT). Addressing the data availability issue is crucial for enhancing AI applications in the field of OCT diagnostics. This review aims to provide a comprehensive analysis of all publicly accessible retinal OCT datasets. Our main objective is to compile a list of OCT datasets and their properties, which can serve as an accessible reference, facilitating data curation for medical image analysis tasks. For this review, we searched through the Zenodo repository, Mendeley Data repository, MEDLINE database, and Google Dataset search engine. We systematically evaluated all the identified datasets and found 23 open-access datasets containing OCT images, which significantly vary in terms of size, scope, and ground-truth labels. Our findings indicate the need for improvement in data-sharing practices and standardized documentation. Enhancing the availability and quality of OCT datasets will support the development of AI algorithms and ultimately improve diagnostic capabilities in ophthalmology. By providing a comprehensive list of accessible OCT datasets, this review aims to facilitate better utilization and development of AI in medical image analysis. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
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19 pages, 3756 KiB  
Review
Updates on Treatment Modalities for Primary Rhegmatogenous Retinal Detachment Repair
by Sofija Davidović, Siniša Babović, Aleksandar Miljković, Svetlana Pavin, Ana Bolesnikov-Tošić and Sava Barišić
Diagnostics 2024, 14(14), 1493; https://doi.org/10.3390/diagnostics14141493 - 11 Jul 2024
Viewed by 798
Abstract
Rhegmatogenous retinal detachment, a severe eye condition, presents anatomic separation of the neurosensory retina from its outermost layer—the retinal pigment epithelium. Early recognition of this relatively common finding and proper referral of patients to the retinal surgery department is essential in order to [...] Read more.
Rhegmatogenous retinal detachment, a severe eye condition, presents anatomic separation of the neurosensory retina from its outermost layer—the retinal pigment epithelium. Early recognition of this relatively common finding and proper referral of patients to the retinal surgery department is essential in order to minimize its consequent possible severe reduction in vision. Several major surgical methods for the repair of primary rhegmatogenous retinal detachment have been in use over the last several decades, and they all aim to find and close the break in the retina that has caused the detachment. Surgery can be performed as pneumatic retinopexy, pars plana vitrectomy, and/or episcleral surgery (buckling). General surgical trends for reattaching the retina include moving from extraocular to intraocular surgery and from bigger gauge to smaller gauge via minimal invasive vitrectomy surgery (MIVS), with implementing shorter-lasting intraocular tamponades. Surgical options for rhegmatogenous retinal detachment treatment nowadays emphasize gaining retinal reattachment, preferably with one surgery and with minimum damage to the eye. The procedure should not bring secondary eye conditions and complications with severe impairment of visual acuity, and it should be performed on as much as a smaller budget, with possibly peribulbar anesthesia, enabling the patient the quickest possible recovery. It should be adjusted to the patient’s condition, not to the surgeon’s skills or preferences. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
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Other

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11 pages, 5118 KiB  
Case Report
Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography
by Anca Elena Târtea, Carmen Luminița Mocanu, Alin Ștefan Ștefănescu Dima, Andreea Cornelia Tănasie, Veronica Maria, Alexandra Oltea Dan and Andrei Theodor Bălășoiu
Diagnostics 2024, 14(13), 1447; https://doi.org/10.3390/diagnostics14131447 - 6 Jul 2024
Viewed by 716
Abstract
Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the [...] Read more.
Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the skin and the nervous system. The most frequent clinical signs of NF 1 include café-au-lait spots all over the surface of the skin and axillary freckling; however, these signs can be accompanied by more severe manifestations such as the growth of both benign and malignant nervous system tumors and skeletal dysplasia, as well as a wide range of ocular manifestations. We report the rare case of retinal microvascular alterations and choroidal nodules in a 15 year old male patient with NF 1, detectable on optical coherence tomography angiography (OCTA). The hyperreflective choroidal nodules modified the profile of the choroidal vasculature. The retinal microvascular alterations in the form of clustered capillaries were detected in the superficial capillary plexus located nasally to the macular region. Retinal vascular abnormalities undetectable on fundus photography or fundoscopy can be present in patients with NF 1. Indirect ophthalmoscopy of our study patient was unremarkable. However, retinal vascular abnormalities were seen on OCTA scans in the superficial capillary plexus and choroidal nodules were detected on raster OCT scans. OCTA represents a useful imaging technique for detecting retinal microvascular abnormalities, which can be considered additional distinctive signs of NF 1. Full article
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)
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