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Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: 20 May 2026 | Viewed by 8696

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Dr. Minzhong Yu

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Department of Ophthalmology and Visual Sciences, University Hospitals Eye Institute, Case Western Reserve University, Cleveland, OH 44106, USA
Interests: inherited retinal diseases; age-related macular degeneration; diabetic retinopathy; multimodal retinal imaging; treatment
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Special Issue Information

Dear Colleagues,

This Special Issue invites original research articles, reviews, and clinical studies on topics including, but not limited to, the following:

Pathophysiology of Retinal Diseases: Deep understanding of the genetic, molecular, and cellular mechanisms of retinal degeneration and dysfunction and their clinical applications.
Electrophysiology in Retinal Disease: The role of ERG and other functional tests in diagnosing and monitoring retinal conditions.
Innovative Imaging and Biomarkers: Advances in OCT, fundus autofluorescence, and AI-driven diagnostic tools for retinal disease assessment.
Therapeutic Strategies: Pharmacological, gene therapy, and surgical interventions for conditions such as age-related macular degeneration, inherited retinal dystrophies, and diabetic retinopathy.
Clinical Applications: Bridging basic science discoveries with clinical practice in retinal disease management.

Submission Information

Manuscript Deadline: 20 May 2026
Guest Editor: Minzhong Yu, PhD, MMed
Journal: Journal of Clinical Medicine (JCM)
Impact Factor: 2.9

We invite contributions from clinicians, researchers, and industry experts to advance knowledge in the field of retinal diseases.

For inquiries or to submit your manuscript, please contact Ms Rainie Zhang <rainie.zhang@mdpi.com>.

We look forward to your valuable contributions.

Dr. Minzhong Yu
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 250 words) can be sent to the Editorial Office for assessment.

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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

inherited retinal diseases
age-related macular degeneration
diabetic retinopathy
multimodal retinal imaging
treatment

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Published Papers (7 papers)

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Research

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13 pages, 559 KB

Open AccessArticle

Contrast Sensitivity and Colour Vision Tests for Early Detection and Monitoring of Hydroxychloroquine Retinal Toxicity: A Preliminary Study

by Amal Aldarwesh, Latifah Alwadman, Ali Almustanyir, Mosaad Alhassan, Muhammed S. Alluwimi, Ansam Alateeq and Ibrahim Almaghlouth

J. Clin. Med. 2026, 15(3), 1309; https://doi.org/10.3390/jcm15031309 - 6 Feb 2026

Viewed by 537

Abstract

Background/Objectives: Hydroxychloroquine (HCQ) is used to manage various autoimmune diseases, including systemic lupus erythematosus. The prolonged use of HCQ is associated with retinopathy and irreversible visual loss due to retinal toxicity. Despite adherence to dosage regimens, patients may develop functional rather than structural changes, without detectable abnormalities on routine examination using visual acuity and optical coherence tomography (OCT). The study aimed to detect early signs of retinopathy in patients with autoimmune diseases treated with HCQ. Methods: This cross-sectional study included patients (n = 36) with autoimmune diseases who were treated with HCQ. The control group (n = 35) comprised healthy volunteers matched for age and sex. All participants were screened using colour vision tests (Ishihara, Konan ColourDX high definition [HD]), and retinal thickness was evaluated using OCT. Results: Our findings suggest a significant reduction in the contrast threshold of the L and M-cone photoreceptors compared with that of the control using Konan ColourDX HD. The OCT measurements revealed no statistically significant difference in retinal thickness between patients and controls; however, the contrast sensitivity test showed a significant reduction at all spatial frequencies (p < 0.0001). Conclusions: The current study suggests that the Konan ColourDX cone contrast test HD and contrast sensitivity testing may be valuable for periodic monitoring of patients receiving HCQ, potentially enabling earlier detection of toxicity. However, longitudinal studies with larger cohorts are needed to confirm these findings and to further establish the clinical value of these functional visual tests. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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15 pages, 621 KB

Open AccessArticle

Retinal Microvascular and Orbital Structural Alterations in Thyroid Eye Disease

by Vera Jelušić, Ivanka Maduna, Dubravka Biuk, Zdravka Krivdić Dupan, Josip Barać, Nikolina Šilješ, Laura Jelušić, Tvrtka Benašić and Jelena Juri Mandić

J. Clin. Med. 2026, 15(1), 323; https://doi.org/10.3390/jcm15010323 - 1 Jan 2026

Viewed by 678

Abstract

Background/Objectives: Thyroid eye disease (TED) can lead to structural and microvascular changes in the orbit and retina. This study aimed to investigate the associations between Clinical Activity Score (CAS), orbital magnetic resonance imaging (MRI) measurements, and retinal microvascular changes in TED patients. Methods: This cross-sectional study included 38 patients (76 eyes) with TED. Each patient underwent a comprehensive ophthalmological evaluation, CAS assessment, and a detailed medical history. Optical coherence tomography angiography (OCTA) was performed to quantify vessel density (VD) in the superficial and deep capillary plexus (SCP and DCP). Exophthalmos, extraocular muscle thickness and orbital fat thickness were measured on MRI scans to evaluate structural changes. Laboratory analyses included thyroid hormone levels, thyrotropin receptor antibodies (TRAb), anti-thyroid peroxidase antibodies (anti-TPO), and lipid profile. Results: Active TED patients (CAS ≥ 3) had significantly higher TRAb levels (p < 0.001), while anti-TPO did not differ between groups. Active eyes showed significantly higher DCP VD in the whole image (p = 0.013), parafovea (p = 0.012), and perifovea (p = 0.009) across all quadrants, with no difference in SCP or the foveal avascular zone (FAZ). In linear mixed model regression analyses, after adjusting for previous glucocorticosteroid therapy, higher triglycerides, greater medial rectus thickness, and whole-image DCP VD independently predicted higher CAS values (R² = 42, p < 0.001). After adjusting for age and sex, CAS remained significantly positive predictor of DCP VD in the parafovea (R² = 0.22, p < 0.001). Conclusions: Changes in DCP VD reflect TED activity and structural orbital involvement. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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18 pages, 2749 KB

Open AccessArticle

A Novel Panmacular Strategy for Subthreshold Micropulse Laser in CSC: Two-Year Functional and Morphological Outcomes

by Małgorzata Latalska, Sławomir Dresler, Magdalena Wójciak, Ireneusz Sowa and Robert Rejdak

J. Clin. Med. 2026, 15(1), 43; https://doi.org/10.3390/jcm15010043 - 20 Dec 2025

Viewed by 527

Abstract

Background/Objectives: Central serous chorioretinopathy (CSC) is the fourth most common retinal disorder. Subthreshold micropulse laser therapy (MPLT) is a promising option. The study aimed to evaluate whether a novel panmacular MPLT strategy leads to significant long-term functional and structural improvement in acute (aCSC), chronic (cCSC), and recurrent (rCSC). Methods: This retrospective, non-comparative study included CSC patients (n = 41) and healthy controls (n = 14). Participants underwent panmacular subthreshold MPLT. Best-corrected visual acuity (BCVA), retinal sensitivity (RetSens), central choroidal thickness (CCT), and pachyvessel diameter were measured at baseline and at 24 months post first treatment. The mean post-intervention observation time (from the last treatment to the final follow-up) was 24.0 months for the aCSC group and 18.6 months for the cCSC and rCSC groups. Treatment required a mean of 1 session in the aCSC group (range 1–3) and a mean of 2.8 sessions in the cCSC and rCSC groups (range 1–8). Results: Complete subretinal fluid (SRF) resolution was achieved in 100% of aCSC cases, 86.66% of cCSC, and 63.63% of rCSC. Non-resolution/recurrence occurred in 13.33% of cCSC (2/15), and 36.37% of rCSC (4/11). After two years BCVA significantly improved across all groups (e.g., aCSC: improved from 0.74 ± 0.05 to 0.98 ± 0.02, p = 0.005). RetSens significantly improved in aCSC (increased by 5 dB, p = 0.001) and cCSC (increased by 3.8 dB, p = 0.046) CCT, CRT and pachyvessel diameter significantly decreased post-treatment in all CSC groups (p < 0.05). Conclusions: Panmacular MPLT is a safe and effective therapy for CSC, providing significant long-term functional and structural improvement, particularly in acute and chronic cases. The therapeutic effects were weakest in the rCSC group, which showed the poorest functional outcomes and a higher burden, suggesting that a recurrent disease course may be a primary negative prognostic factor. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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10 pages, 2019 KB

Open AccessArticle

Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp)

by Simone Kellner, Silke Weinitz, Ghazaleh Farmand, Heidi Stöhr, Bernhard H. F. Weber and Ulrich Kellner

J. Clin. Med. 2025, 14(14), 4893; https://doi.org/10.3390/jcm14144893 - 10 Jul 2025

Viewed by 960

Abstract

Objective: The clinical presentation of inherited retinal dystrophies associated with pathogenic variants in PRPH2 is highly variable. Here we present bilateral sector macular dystrophy as a novel clinical phenotype. Methods and analysis: Ophthalmologic examination, detailed retinal imaging with optical coherence tomography (OCT), OCT-angiography, fundus and near-infrared autofluorescence and molecular genetic testing were performed on a 30-year-old female. Results: The patient reported the onset of subjective visual disturbances 4.5 months prior to our first examination. Clinical examination and retinal imaging revealed bilateral sharply demarcated paracentral lesions in the temporal lower macula and otherwise normal retinal findings. Patient history revealed no medication or other possible causes for these unusual retinal lesions. Molecular genetic testing revealed a heterozygous c.623G>A variation (p.(Gly208Asp)) in the PRPH2 gene. Conclusions: Bilateral sectoral macular dystrophy has not been reported previously in any inherited retinal dystrophy. This feature adds to the wide spectrum of PRPH2-associated clinical presentations. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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Review

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23 pages, 1390 KB

Open AccessReview

Precision Medicine in Diabetic Retinopathy: The Role of Genetic and Epigenetic Biomarkers

by Snježana Kaštelan, Tamara Nikuševa-Martić, Daria Pašalić, Tomislav Matejić and Antonela Gverović Antunica

J. Clin. Med. 2025, 14(24), 8778; https://doi.org/10.3390/jcm14248778 - 11 Dec 2025

Viewed by 819

Abstract

Diabetes mellitus and its microvascular complications, including diabetic retinopathy (DR), present significant health challenges. DR is a leading cause of vision impairment and blindness among working-age individuals in developed countries. The prevalence of DR continues to rise, underscoring the need for more precise diagnostic and therapeutic strategies. Due to its multifactorial nature and despite advancements in understanding DR pathophysiology, predicting its onset and progression remains challenging. Traditional screening and treatment methods often fall short of addressing the heterogeneous nature of the disease, underscoring the need for personalised therapeutic strategies. Recent research has highlighted the vital role of genetic biomarkers in the development and progression of DR, paving the way for a precision medicine approach. Personalised eye care in patients with diabetes aims to accurately predict the risk of DR progression and visual loss in real time. A precision medicine approach that utilises genetic biomarkers offers a promising pathway for personalised diagnosis and treatment strategies. Each DR case is distinct in phenotype, genotype, and therapeutic response, making personalised therapy crucial for optimising outcomes. Advancements in genomics, including genome-wide association studies (GWAS) and next-generation sequencing (NGS), have identified numerous genetic markers associated with DR susceptibility and severity. Emerging evidence underscores the critical role of genetic factors, which account for 25–50% of the risk of developing DR. Advances in identifying genetic markers, such as gene polymorphisms and human leukocyte antigen associations, along with the development of targeted drugs, highlight a promising future for personalised medicine in DR. By identifying specific genetic variants associated with DR, we can enhance prevention and early diagnosis, tailor personalised treatment plans, and more accurately predict disease progression. This represents a critical step toward personalised medicine in DR management. Integrating genetic and epigenetic biomarkers into clinical models may transform DR care through earlier diagnosis and precision-guided interventions, gearing it toward precision ophthalmology. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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18 pages, 985 KB

Open AccessFeature PaperReview

Dark Adaptometry as a Diagnostic Tool in Retinal Diseases: Mechanisms and Clinical Utility

by Anas Bakdalieh, Layth M. Khawaja and Minzhong Yu

J. Clin. Med. 2025, 14(11), 3742; https://doi.org/10.3390/jcm14113742 - 27 May 2025

Viewed by 4063

Abstract

Dark adaptometry is a non-invasive functional test that assesses the retina’s ability to recover sensitivity in low-light conditions following photobleaching. This review explores the physiological mechanisms underlying dark adaptation (DA), including photopigment regeneration and the critical role of the retinal pigment epithelium in the visual cycle. We detail clinical protocols for dark adaptometry using modern instruments such as the AdaptDx, highlighting methodological advances that improve testing efficiency and reproducibility. The clinical utility of dark adaptometry is examined across a range of inherited and acquired retinal disorders, including age-related macular degeneration (AMD), retinitis pigmentosa (RP), Stargardt disease, diabetic retinopathy (DR), cone–rod dystrophy (CRD), vitamin A deficiency, and congenital stationary night blindness (CSNB). Dark adaptometry has emerged as a sensitive biomarker capable of detecting functional deficits before structural changes are evident, making it a valuable tool for early diagnosis and monitoring disease progression. However, limitations such as age-related variability, patient compliance, and lack of standardization remain challenges to broader clinical adoption. Continued refinement of dark adaptometry protocols and instrumentation is essential to maximize its diagnostic potential in ophthalmic practice. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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Other

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15 pages, 1230 KB

Open AccessSystematic Review

Hyperbaric Oxygen Therapy Versus Intravenous Thrombolysis in the Treatment of Central Retinal Artery Occlusion: A Systematic Review and Meta-Analysis

by Anas Bakdalieh, Dawood Siddiqui, Ding-Geng Chen and Minzhong Yu

J. Clin. Med. 2026, 15(7), 2628; https://doi.org/10.3390/jcm15072628 - 30 Mar 2026

Viewed by 381

Abstract

Background: Central retinal artery occlusion (CRAO) causes sudden, often profound monocular vision loss. We compared the efficacy and safety of hyperbaric oxygen therapy (HBOT) versus intravenous thrombolysis (IVT) using a systematic review and meta-analysis. Methods: Following PRISMA 2020 guidance, we searched PubMed, Cochrane Library, Web of Science, and VHL from inception to 27 May 2025, screened records in duplicate, and synthesized visual outcomes (best-corrected visual acuity [BCVA], logMAR), onset-to-treatment time, and adverse events using random-effects models. Results: Twenty-five observational studies (781 patients; 557 HBOT eyes, 225 IVT eyes) met inclusion. Both HBOT and IVT were associated with significant improvements in BCVA (HBOT: MD −0.57 logMAR; IVT: MD −0.53 logMAR). Clinically meaningful improvement occurred in 45.8% after HBOT and 42.0% after IVT. Adverse event rates were similar (HBOT 11.3%; IVT 10.2%) but differed in type (ear barotrauma with HBOT; hemorrhagic events with IVT). Conclusions: HBOT and IVT both improve visual outcomes in CRAO. Differences in adverse event profiles and substantial heterogeneity among IVT studies underscore the need for adequately powered comparative trials and standardized treatment pathways. Registration: Not prospectively registered; PRISMA 2020 checklist is provided. Full article

(This article belongs to the Special Issue Advances in Retinal Diseases—Mechanisms, Diagnostics, and Emerging Therapies)

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