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

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 3956

Special Issue Editor

Dr. Minzhong Yu

E-Mail Website
Guest Editor
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
Special Issues, Collections and Topics in MDPI journals

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: Nov 20, 2025
  • Guest Editor: Minzhong Yu, PhD, MMed
  • Journal: Journal of Clinical Medicine (JCM)
  • Impact Factor: 3.0

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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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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10 pages, 2019 KB  
Article
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 731
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 [...] Read more.
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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25 pages, 1249 KB  
Review
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
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 [...] Read more.
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)
18 pages, 985 KB  
Review
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 2847
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 [...] Read more.
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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