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Diagnostics
Special Issues
Eye Disease: Diagnosis, Management, and Prognosis
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Eye Disease: Diagnosis, Management, and Prognosis

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 June 2025) | Viewed by 6364

Special Issue Editor

Dr. Adam Wylęgała

E-Mail Website
Guest Editor
Health Promotion and Obesity Management Unit, Department of Pathophysiology, Faculty of Medical Sciences, Medical University of Silesia, 40-760 Katowice, Poland
Interests: OCT; ophthalmology; eye diseases; glaucoma

Special Issue Information

Dear Colleagues,

The human eye is a marvel of biological engineering, enabling us to experience the world in vibrant detail. However, a wide range of diseases can threaten this precious sense. Early and accurate diagnosis, coupled with effective management strategies, is crucial for preserving vision and improving patients’ quality of life.

This Special Issue of Diagnostics aims to explore the latest advancements in eye disease diagnosis, management and prognosis. We invite submissions that address the evolving landscape of ophthalmology and contribute to improved patient care.

Key areas of interest include, but are not limited to:

    Innovative diagnostic techniques such as:

    Artificial intelligence (AI) applications in image analysis;

    Advanced optical coherence tomography (OCT) applications;

    The use of other novel imaging modalities;

    Emerging treatment strategies could include:

    Gene therapy;

    Targeted drug delivery systems;

    Advancements in surgical techniques;

     The exploration of personalized medicine approaches;

     Prognostic biomarkers and predictive models that can predict:

     Disease progression;

     Treatment response;

     Patient outcomes.

Additionally, articles exploring the development of predictive models for eye diseases are welcome.

    Of interest are public health and global eye care, including the following:

     Teleophthalmology applications;

        Screening programs for underserved populations;

        Cost-effective diagnostic and treatment strategies.

We encourage submissions from a variety of research disciplines, including ophthalmology, biomedical engineering and computer science. This Special Issue welcomes original research articles, reviews and perspectives that advance the field of eye disease diagnosis, management and prognosis.

We look forward to receiving your valuable contributions!

Sincerely,

Dr. Adam Wylęgała
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 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. Diagnostics 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

  • OCT
  • ophthalmology
  • eye diseases
  • glaucoma
  • diagnosis
  • prognosis

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

Published Papers (5 papers)

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Research

Jump to: Review, Other

11 pages, 389 KiB  
Article
The Efficiency, Predictability and Safety Between Custom-Q Femotsecond Laser In Situ Keratomileusis and Second (Visumax 800) Generation Keratorefractive Lenticule Extraction Surgery
by Chia-Yi Lee, Shun-Fa Yang, Ie-Bin Lian, Hung-Chi Chen, Jing-Yang Huang and Chao-Kai Chang
Diagnostics 2025, 15(5), 634; https://doi.org/10.3390/diagnostics15050634 - 5 Mar 2025
Viewed by 898
Abstract
Background/Objectives: To evaluate the postoperative outcomes between the second-generation keratorefractive lenticule extraction (KLEx) surgery and femtosecond laser in situ keratomileusis (FS-LASIK). Methods: A retrospective cohort study was conducted and subjects received second-generation KLEx and FS-LASIK surgeries were enrolled. A total of [...] Read more.
Background/Objectives: To evaluate the postoperative outcomes between the second-generation keratorefractive lenticule extraction (KLEx) surgery and femtosecond laser in situ keratomileusis (FS-LASIK). Methods: A retrospective cohort study was conducted and subjects received second-generation KLEx and FS-LASIK surgeries were enrolled. A total of 124 and 102 eyes were selected into the second-generation KLEx and FS-LASIK groups after exclusion. The primary outcomes were the postoperative uncorrected distance visual acuity (UDVA), spherical equivalent (SE), amount of astigmatism, and best-correct visual acuity (BCVA). The independent t-test was applied to compare the primary outcomes between groups. Results: The mean UDVA three months postoperatively showed insignificant differences between the two groups (p = 0.999). At the final visit, there were 113 (91.12%) and 96 (94.12%) subjects who reached UDVA 20/20 in the FS-LASIK and second-generation KLEx groups and the difference was statistically insignificant (p = 0.455), and the second-generation KLEx group illustrated a higher UDVA improvement (p = 0.046). The SE three months postoperatively showed insignificant difference between groups, whether the absolute value or the ratio of SE within ±0.50 D or ±1.00 D (all p > 0.05). The vector analysis indicated that the difference vector (DV) was significantly lower in the second-generation KLEx group (p = 0.033). The ratio of loss of more than 1 line BCVA showed insignificant differences between the two groups (all p > 0.05). In addition, the risk of postoperative dry eye disease (DED) was significantly higher in the FS-LASIK group (p = 0.031). Conclusions: The efficiency and predictability between second-generation KLEx and FS-LASIK surgeries are similar, while more DED occurred after FS-LASIK surgery. Full article
(This article belongs to the Special Issue Eye Disease: Diagnosis, Management, and Prognosis)
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Review

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18 pages, 319 KiB  
Review
Should We Fear Wipe-Out in Glaucoma Surgery?
by Marco Zeppieri, Ludovica Cannizzaro, Giuseppe Gagliano, Francesco Cappellani, Lorenzo Rapisarda, Alfonso Spinello, Antonio Longo, Andrea Russo and Alessandro Avitabile
Diagnostics 2025, 15(13), 1571; https://doi.org/10.3390/diagnostics15131571 - 20 Jun 2025
Viewed by 430
Abstract
Wipe-out is defined as a sudden, unexplained, and irreversible loss of residual central vision following glaucoma surgery, typically in eyes with advanced visual field damage and severely compromised optic nerves. The purpose of this review is to critically assess the current incidence, risk [...] Read more.
Wipe-out is defined as a sudden, unexplained, and irreversible loss of residual central vision following glaucoma surgery, typically in eyes with advanced visual field damage and severely compromised optic nerves. The purpose of this review is to critically assess the current incidence, risk factors, pathophysiological mechanisms, and clinical relevance of “wipe-out”, a rare but devastating complication of glaucoma surgery characterized by sudden, unexplained central vision loss postoperatively. A comprehensive literature review was conducted, analyzing key peer-reviewed studies from electronic databases (PubMed, Medline, and Google Scholar) published up to 2025. The data from the literature published prior to the year 2000 suggest that wipe-out incidences range broadly from <1% to 13%. Contemporary prospective studies and large-scale reviews indicate a significantly lower current incidence, frequently below 1%. Identified risk factors include severe preoperative visual field loss (especially split fixation), older age, immediate postoperative hypotony, and compromised optic nerve head perfusion. The proposed mechanisms involve acute vascular insults, ischemia–reperfusion injury, and accelerated apoptosis of already vulnerable retinal ganglion cells. Modern MIGS and refined trabeculectomy techniques exhibit notably lower wipe-out risks compared to historical data. The literature emphasizes preventive management, including careful patient selection, incremental intraocular pressure reduction, and minimally invasive anesthetic approaches. Although wipe-out syndrome represents a serious complication, its incidence in modern glaucoma surgery is minimal. The considerable benefits of contemporary surgical approaches—particularly MIGS—in preserving vision clearly outweigh this very low risk. Ophthalmologists should remain vigilant but confident in the safety and efficacy of modern glaucoma surgical techniques, emphasizing proactive intervention to prevent blindness rather than avoiding necessary surgery in consideration of the minimal risk of wipe-out. Full article
(This article belongs to the Special Issue Eye Disease: Diagnosis, Management, and Prognosis)
12 pages, 1532 KiB  
Review
Classification of Hydroxychloroquine Retinopathy: A Literature Review and Proposal for Revision
by Seong Joon Ahn
Diagnostics 2024, 14(16), 1803; https://doi.org/10.3390/diagnostics14161803 - 19 Aug 2024
Cited by 1 | Viewed by 2014
Abstract
Establishing universal standards for the nomenclature and classification of hydroxychloroquine retinopathy is essential. This review summarizes the classifications used for categorizing the patterns of hydroxychloroquine retinopathy and grading its severity in the literature, highlighting the limitations of these classifications based on recent findings. [...] Read more.
Establishing universal standards for the nomenclature and classification of hydroxychloroquine retinopathy is essential. This review summarizes the classifications used for categorizing the patterns of hydroxychloroquine retinopathy and grading its severity in the literature, highlighting the limitations of these classifications based on recent findings. To overcome these limitations, I propose categorizing hydroxychloroquine retinopathy into four categories based on optical coherence tomography (OCT) findings: parafoveal (parafoveal damage only), pericentral (pericentral damage only), combined parafoveal and pericentral (both parafoveal and pericentral damage), and posterior polar (widespread damage over parafoveal, pericentral, and more peripheral areas), with or without foveal involvement. Alternatively, eyes can be categorized simply into parafoveal and pericentral retinopathy based on the most dominant area of damage, rather than the topographic distribution of overall retinal damage. Furthermore, I suggest a five-stage modified version of the current three-stage grading system of disease severity based on fundus autofluorescence (FAF) as follows: 0, no hyperautofluorescence (normal); 1, localized parafoveal or pericentral hyperautofluorescence on FAF; 2, hyperautofluorescence extending greater than 180° around the fovea; 3, combined retinal pigment epithelium (RPE) defects (hypoautofluorescence on FAF) without foveal involvement; and 4, fovea-involving hypoautofluorescence. These classification systems can better address the topographic characteristics of hydroxychloroquine retinopathy using disease patterns and assess the risk of vision-threatening retinopathy by stage, particularly with foveal involvement. Full article
(This article belongs to the Special Issue Eye Disease: Diagnosis, Management, and Prognosis)
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17 pages, 319 KiB  
Review
Real-World Research on Retinal Diseases Using Health Claims Database: A Narrative Review
by Seong Joon Ahn
Diagnostics 2024, 14(14), 1568; https://doi.org/10.3390/diagnostics14141568 - 19 Jul 2024
Viewed by 1939
Abstract
Real-world data (RWD) has emerged as a crucial component in understanding and improving patient outcomes across various medical conditions, including retinal diseases. Health claims databases, generated from healthcare reimbursement claims, offer a comprehensive source of RWD, providing insights into patient outcomes, healthcare utilization, [...] Read more.
Real-world data (RWD) has emerged as a crucial component in understanding and improving patient outcomes across various medical conditions, including retinal diseases. Health claims databases, generated from healthcare reimbursement claims, offer a comprehensive source of RWD, providing insights into patient outcomes, healthcare utilization, and treatment effectiveness. However, the use of these databases for research also presents unique challenges. This narrative review explores the role of real-world research on retinal diseases using health claims databases, highlighting their advantages, limitations, and potential contributions to advancing our understanding and management of the diseases. The review examines the applications of health claims databases in retinal disease research, including epidemiological studies, comparative effectiveness and safety analyses, economic burden assessments, and evaluations of patient outcomes and quality of care. Previous findings demonstrate the value of these databases in generating prevalence and incidence estimates, identifying risk factors and predictors, evaluating treatment effectiveness and safety, and understanding healthcare utilization patterns and costs associated with retinal diseases. Despite their strengths, health claims databases face challenges related to data limitations, biases, privacy concerns, and methodological issues. Accordingly, the review also explores future directions and opportunities, including advancements in data collection and analysis, integration with electronic health records, collaborative research networks and consortia, and the evolving regulatory landscape. These developments are expected to enhance the utility of health claims databases for retinal disease research, resulting in more comprehensive and impactful findings across diverse retinal disorders and robust real-world insights from a large population. Full article
(This article belongs to the Special Issue Eye Disease: Diagnosis, Management, and Prognosis)

Other

Jump to: Research, Review

11 pages, 1917 KiB  
Case Report
Brittle Cornea Syndrome: Molecular Diagnosis and Management
by Marco Zeppieri, Mattia Gentile, Antonio Acquaviva, Davide Scollo, Fabiana D’Esposito, Giuseppe Gagliano, Alessandro Avitabile, Caterina Gagliano and Lucia Lapenna
Diagnostics 2025, 15(13), 1596; https://doi.org/10.3390/diagnostics15131596 - 24 Jun 2025
Viewed by 378
Abstract
Background and Clinical Significance: Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture. It is primarily caused by mutations in the ZNF469 or PRDM5 [...] Read more.
Background and Clinical Significance: Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture. It is primarily caused by mutations in the ZNF469 or PRDM5 genes, which regulate extracellular matrix integrity. Early recognition and diagnosis of BCS are crucial to prevent severe visual impairment. This report presents two genetically confirmed cases of BCS in Albanian siblings, emphasizing the diagnostic value of whole-exome sequencing and individualized surgical management strategies. Case Presentation: Two siblings—a 28-year-old male and a 25-year-old female—presented with progressive visual deterioration and marked corneal thinning (<200 µm). Both had a history of spontaneous ocular rupture following minor trauma in the contralateral eye. Detailed ophthalmologic evaluation revealed keratoglobus, high myopia, and irregular astigmatism. Genetic testing identified the homozygous pathogenic variant c.974delG (p.Cys325LeufsX2) in the PRDM5 gene in both cases. The male underwent penetrating keratoplasty (PKP), achieving a best-corrected visual acuity (BCVA) of 20/30. The female initially underwent deep anterior lamellar keratoplasty (DALK), which was converted to PKP intraoperatively due to central endothelial perforation, resulting in a BCVA of 20/25. Both patients remained complication-free over a 7-year follow-up period. Conclusions: These cases highlight the importance of early genetic diagnosis and a tailored surgical approach in managing BCS. Long-term monitoring and protective strategies are essential to prevent complications. Incorporating genetic testing into clinical practice can enhance diagnostic accuracy and guide personalized treatment plans in patients with hereditary corneal dystrophies. Full article
(This article belongs to the Special Issue Eye Disease: Diagnosis, Management, and Prognosis)
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