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Diagnostics
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New Insights into the Diagnosis and Prognosis of Eye Diseases
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New Insights into the Diagnosis and Prognosis of Eye Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 August 2026 | Viewed by 8318

Special Issue Editors

Dr. Rosa Giglio

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Guest Editor
Eye Clinic, Department of Medicine, Surgery and Health Sciences, University of Trieste, 34134 Trieste, Italy
Interests: cataract surgery; intraocular lenses (IOLs); corneal diseases; astigmatism; dry eye; corneal surgical procedures (keratoplasty)
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Daniele Tognetto

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Guest Editor
Department of Medicine, Surgery and Health Sciences, University Eye Clinic of Trieste, 34100 Trieste, Italy
Interests: vitreoretinal surgery; glaucoma surgery; corneal surgical procedures (keratoplasty); anterior and posterior segment diseases; eye trauma
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, titled "New Insights into the Diagnosis and Prognosis of Eye Diseases", delves into the latest advancements and breakthroughs in understanding and managing ocular conditions. It brings together cutting-edge research, clinical case studies, and expert perspectives that highlight innovative diagnostic techniques, improved treatment modalities, and refined prognostic models. This Special Issue aims to empower healthcare professionals with the knowledge to enhance patient outcomes and drive progress in the field of eye care.

Dr. Rosa Giglio
Prof. Dr. Daniele Tognetto
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 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. 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

  • diagnosis
  • prognosis
  • eye diseases
  • markers
  • clinical practice and patient care

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Published Papers (6 papers)

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Research

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13 pages, 709 KB  
Article
Prevalence of Diabetes Among First-Time Ophthalmology Patients at a Nonprofit Hospital in Mexico
by Valeria Sánchez-Huerta, Mary Lady González Suriel, Héctor Randolph, María José Barragán Álvarez and Benjamin Aleman-Castilla
Diagnostics 2025, 15(22), 2922; https://doi.org/10.3390/diagnostics15222922 - 19 Nov 2025
Viewed by 630
Abstract
Background/Objectives: Diabetes is Mexico’s second-leading cause of death, primary cause of disability, and diabetic retinopathy (DR) associated with this disease is the leading cause of vision loss among the working population. Limited healthcare funding and inequitable access hinder diagnosis and treatment, leaving [...] Read more.
Background/Objectives: Diabetes is Mexico’s second-leading cause of death, primary cause of disability, and diabetic retinopathy (DR) associated with this disease is the leading cause of vision loss among the working population. Limited healthcare funding and inequitable access hinder diagnosis and treatment, leaving 32% undiagnosed and at risk of developing serious complications such as DR. With screening rates declining, nonprofits like the Association to Prevent Blindness in Mexico (APEC) play a crucial role in detecting diabetes and DR, reducing healthcare costs, and improving patient outcomes. Methods: This study analyzes data from over 25,000 first-time patients screened at APEC in 2023, providing a unique empirical resource on diabetes and DR in Mexico. Using the Social Return on Investment (SROI) approach, it evaluates program costs (medical resources, equipment, and personnel) against patient benefits. These benefits are quantified as the probability that newly diagnosed or uncontrolled diabetes patients begin treatment, thus preventing DR, weighted by the Value of Statistical Life (VSL). Results: Of the total screened patients, 17.2% had diabetes. Among them, 20.0% were unaware of their condition, while the remaining 80.0% knew their diagnosis. Notably, 25.8% of those who were aware of their diagnosis did not have diabetes under control. Considering all costs associated with the first-time ophthalmology patients screening program and assuming only a portion of patients would seek treatment, every peso invested by APEC has the potential to generate the equivalent to 542 pesos in patient well-being. When factoring in the subsequent costs of diabetes control treatment borne by the patients, the potential Benefit–Cost Ratio is estimated at 9:1. These results proved consistent to sensitivity analysis for key assumptions affecting the estimated benefits and costs. Conclusions: The study demonstrates that integrating routine diabetes screening into specialized ophthalmologic care can generate substantial social value through timely intervention, as early detection promotes better diabetes management and helps prevent complications beyond diabetic retinopathy. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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17 pages, 4186 KB  
Article
A Revised Concept for Ocular Surface Imprinting: Easy-to-Use Device for Morphological and Biomolecular-Based Differential Diagnosis
by Bijorn Omar Balzamino, Ilaria Ghezzi, Roberto Sgrulletta, Rossella Anna Maria Colabelli Gisoldi, Augusto Pocobelli, Antonio Di Zazzo, Loredana Zollo and Alessandra Micera
Diagnostics 2025, 15(20), 2660; https://doi.org/10.3390/diagnostics15202660 - 21 Oct 2025
Viewed by 717
Abstract
Background/objectives: The continuous necessity to support biostrumental data with biolomecular data collected using non-invasive tools is influencing the world of ocular surface devices. The ocular imprint still represents a non-invasive and safety technique for collecting corneal and conjunctival epithelia in an easy way, [...] Read more.
Background/objectives: The continuous necessity to support biostrumental data with biolomecular data collected using non-invasive tools is influencing the world of ocular surface devices. The ocular imprint still represents a non-invasive and safety technique for collecting corneal and conjunctival epithelia in an easy way, as performed in human and veterinary clinics. Although used in clinical practice since 1977, operators might benefit from improvements in these techniques, especially in terms of handling and management. Methods: Herein, by reporting the design and characteristics of a patent of ocular surface sampling (the SurfAL pen and periocular-assisted SurfAL pen; PCT WO2016IB51474 20160316), we performed a validation and analysis of its value compared to gold standards. The level-headedness and advantages of this device were verified in 15 sclerocorneal specimens (sampling advantages) and tested in 25 volunteers (handling and operator efficiency, as well as frequency of discomfort in volunteers). Morphological as well as biomolecular analyses were used to compare SurfAL devices with conventional ones. Results: The easy management of SurfAL pens and the good detection of epithelial/goblet cells were confirmed. The SurfAL pen was found to be smart and suitable for routine analysis, as confirmed by quick and reproducible onsite sampling. Periocular-assisted SurfAL pen was comparable in terms of sampling quality but less comparable in terms of subject confidence due to its geometry. Conclusions: This study suggests that the SurfAL pen and periocular-assisted SurfAL pen might represent an additional and hands-on way of sampling ocular surface cells and improve the diagnostic route in ophthalmology. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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11 pages, 826 KB  
Article
A Novel Virtual Reality-Based System for Measuring Deviation Angle in Strabismus: A Prospective Study
by Jhih-Yi Lu, Yin-Cheng Liu, Jui-Bang Lu, Ming-Han Tsai, Wen-Ling Liao, I-Ming Wang, Hui-Ju Lin and Yu-Te Huang
Diagnostics 2025, 15(18), 2402; https://doi.org/10.3390/diagnostics15182402 - 20 Sep 2025
Cited by 1 | Viewed by 919
Abstract
Background/Objectives: To develop a new Virtual Reality (VR) system software for measuring ocular deviation in strabismus patients. Methods: This prospective study included subjects with basic-type exotropia (XT) and non-refractive accommodative esotropia (ET). Ocular deviation was measured using the alternate prism cover [...] Read more.
Background/Objectives: To develop a new Virtual Reality (VR) system software for measuring ocular deviation in strabismus patients. Methods: This prospective study included subjects with basic-type exotropia (XT) and non-refractive accommodative esotropia (ET). Ocular deviation was measured using the alternate prism cover test (APCT) and two VR-based methods: target offset (TO) and a newly developed camera rotation (CR) method. Results: A total of 28 subjects were recruited (5 cases were excluded for preliminary testing and 5 for not meeting inclusion criteria). Among the 18 included patients, 10 (66.7%) had XT and 5 (33.3%) had ET. The median age was 21.5 years (IQR 17 to 25). The mean age was 22.3 years (range: 9–46), with 5 (27.8%) having manifest strabismus and 12 (61.1%) measured while wearing glasses. VR-based methods (TO and CR) showed comparable results to APCT for deviation angle measurements (p = 0.604). Subgroup analysis showed no significant differences in ET patients (all p > 0.05). In XT patients, both TO and CR underestimated deviation angles compared to APCT (p = 0.008 and p = 0.001, respectively), but no significant difference was observed between the two methods (p = 0.811). Linear regression showed CR had a stronger correlation with APCT than TO (R2 = 0.934 vs. 0.874). Conclusions: This newly developed VR system software, incorporating the CR method, provides a reliable approach for measuring ocular deviation. By shifting the entire visual scene rather than just the target, it lays a strong foundation for immersive diagnostic and therapeutic VR applications. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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9 pages, 451 KB  
Article
Novel Handheld Device for Remote Monitoring of Dry Macular Degeneration and Patient Usability Assessment
by Angela C. Yim, Lyna Azzouz and Yannis M. Paulus
Diagnostics 2025, 15(11), 1353; https://doi.org/10.3390/diagnostics15111353 - 28 May 2025
Viewed by 931
Abstract
Background/Objectives: A novel, handheld, standalone device using shape discrimination hyperacuity has been developed to remotely monitor age-related macular degeneration (AMD). Methods: We clinically validated the device in an outpatient dry AMD population to evaluate its usability and comfort. A cross-sectional study was conducted [...] Read more.
Background/Objectives: A novel, handheld, standalone device using shape discrimination hyperacuity has been developed to remotely monitor age-related macular degeneration (AMD). Methods: We clinically validated the device in an outpatient dry AMD population to evaluate its usability and comfort. A cross-sectional study was conducted with subjects aged 50 years or older with dry AMD at the University of Michigan Kellogg Eye Center outpatient clinic after approval from the UM IRB (HUM00187177). Subjects used the device and then completed a device survey and System Usability Scale (SUS). Results: Thirty-one subjects completed the study, and one subject withdrew post-study completion (mean age 77 years, STD 8 years). The mean testing time was 126 s (STD 56 s), and the median was 116 s. Most patients reported that the use of the device occurred for an acceptable duration (97%), was easy (97%), and was comfortable (90%). The mean SUS score was 77.7 (STD 11.9). Conclusions: A handheld, standalone device can provide a rapid, easy, and comfortable testing solution for patients with dry AMD. The usability of the device supports further clinical trials to demonstrate the device’s ability to reliably detect the progression of AMD. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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11 pages, 2429 KB  
Article
Advancing Meibography Assessment and Automated Meibomian Gland Detection Using Gray Value Profiles
by Riccardo Forni, Ida Maruotto, Anna Zanuccoli, Riccardo Nicoletti, Luca Trimigno, Matteo Corbellino, Sònia Travé-Huarte, Giuseppe Giannaccare and Paolo Gargiulo
Diagnostics 2025, 15(10), 1199; https://doi.org/10.3390/diagnostics15101199 - 9 May 2025
Cited by 1 | Viewed by 2173
Abstract
Objective: This study introduces a novel method for the automated detection and quantification of meibomian gland morphology using gray value distribution profiles. The approach addresses limitations in traditional manual and deep learning-based meibography analysis, which are often time-consuming and prone to variability. [...] Read more.
Objective: This study introduces a novel method for the automated detection and quantification of meibomian gland morphology using gray value distribution profiles. The approach addresses limitations in traditional manual and deep learning-based meibography analysis, which are often time-consuming and prone to variability. Methods: This study enrolled 100 volunteers (mean age 40 ± 16 years, range 18–85) who suffered from dry eye and responded to the Ocular Surface Disease Index questionnaire for scoring ocular discomfort symptoms and infrared meibography for capturing imaging of meibomian glands. By leveraging pixel brightness variations, the algorithm provides real-time detection and classification of long, medium, and short meibomian glands, offering a quantitative assessment of gland atrophy. Results: A novel parameter, namely “atrophy index”, a quantitative measure of gland degeneration, is introduced. Atrophy index is the first instrumental measurement to assess single- and multiple-gland morphology. Conclusions: This tool provides a robust, scalable metric for integrating quantitative meibography into clinical practice, making it suitable for real-time screening and advancing the management of dry eyes owing to meibomian gland dysfunction. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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Review

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16 pages, 1198 KB  
Review
Circulating Cell-Free DNA as an Epigenetic Biomarker for Early Diabetic Retinopathy: A Narrative Review
by Boaz Li, Megan M. Yim, Yu Xuan Jin, Brendan K. Tao, Jim S. Xie, Michael Balas, Haaris Khan, Wai-Ching Lam, Peng Yan and Eduardo V. Navajas
Diagnostics 2025, 15(9), 1161; https://doi.org/10.3390/diagnostics15091161 - 2 May 2025
Cited by 1 | Viewed by 2489
Abstract
Diabetic retinopathy (DR), a complication of type 2 diabetes mellitus (T2DM), is typically asymptomatic in its early stages. Diagnosis typically relies on routine fundoscopy for the clinical detection of microvascular abnormalities. However, permanent retinal damage may occur well before clinical signs are appreciable. [...] Read more.
Diabetic retinopathy (DR), a complication of type 2 diabetes mellitus (T2DM), is typically asymptomatic in its early stages. Diagnosis typically relies on routine fundoscopy for the clinical detection of microvascular abnormalities. However, permanent retinal damage may occur well before clinical signs are appreciable. In the early stages of DR, the retina undergoes distinct epigenetic changes, including DNA methylation and histone modifications. Recent evidence supports unique epigenetic ‘signatures’ in patients with DR compared to non-diabetic controls. These DNA ‘signature’ sequences may be specific to the retina and may circulate in peripheral blood in the form of cell-free DNA (cfDNA). In this review, we explore the literature and clinical application of cfDNA sampling as an early, non-invasive, accessible assessment tool for early DR detection. First, we summarize the known epigenetic signatures of DR. Next, we review current sequencing technologies used for cfDNA detection, such as magnetic bead-based enrichment, next-generation sequencing, and bisulfite sequencing. Finally, we outline the current research limitations and emerging areas of study which aim to improve the clinical utility of cfDNA for DR evaluation. Full article
(This article belongs to the Special Issue New Insights into the Diagnosis and Prognosis of Eye Diseases)
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