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Diagnostics
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Innovative Diagnostic Approaches in Retinal Diseases
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Innovative Diagnostic Approaches in Retinal Diseases

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

Deadline for manuscript submissions: 30 September 2026 | Viewed by 5394

Special Issue Editors

Prof. Dr. Benedetto Falsini

E-Mail Website
Guest Editor
1. Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
2. Ophthalmology Unit, Catholic University “Sacro Cuore”, 00168 Rome, Italy
Interests: ophthalmology; OCT angiography; retinal; age-related macular degeneration; degenerative retinal diseases; retina; pathologies
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Andrea Cusumano

E-Mail Website
Guest Editor
Department of Ophthalmology, Tor Vergata University, 00133 Rome, Italy
Interests: retina; ophthalmology; ultrastructural analysis; laser techniques; hereditary retinal diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Retinal diseases, such as age-related macular degeneration, diabetic retinopathy, and retinal vein occlusion, remain leading causes of visual impairment worldwide. Recent advances in imaging technologies, molecular diagnostics, and artificial intelligence have opened new frontiers in early detection, disease monitoring, and personalized treatment planning.

This Special Issue aims to highlight cutting-edge diagnostic strategies in the field of retinal diseases, including, but not limited to, the following: optical coherence tomography (OCT), OCT angiography, fundus autofluorescence, retinal biomarkers, AI-assisted diagnostic tools, and teleophthalmology. We welcome original research articles, clinical studies, and comprehensive reviews that explore novel methodologies, validation studies, and the clinical utility of emerging diagnostic tools.

By bringing together interdisciplinary research, this Special Issue seeks to advance our understanding of retinal pathologies and contribute to improved patient outcomes through earlier and more precise diagnoses.

I look forward to receiving your contributions.

Prof. Dr. Benedetto Falsini
Prof. Dr. Andrea Cusumano
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

  • retinal diseases
  • electrophysiology
  • imaging
  • optical coherence tomography

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Published Papers (5 papers)

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14 pages, 3646 KB  
Article
Diagnostic Accuracy and Real-Life Advantages of the MONA.health Artificial Intelligence Software in Screening for Diabetic Retinopathy and Maculopathy
by Martina Tomić, Romano Vrabec, Toma Babić, Kristina Kljajić and Tomislav Bulum
Diagnostics 2026, 16(5), 730; https://doi.org/10.3390/diagnostics16050730 - 1 Mar 2026
Viewed by 209
Abstract
Background/Objectives: We aimed to evaluate the diagnostic accuracy of the MONA.health artificial intelligence (AI) software (Version 1.0.0; MONA.health, Leuven, Belgium) and compare its advantages in screening for diabetic retinopathy (DR) and diabetic macular edema (DME) with standard fundus photography. Methods: This [...] Read more.
Background/Objectives: We aimed to evaluate the diagnostic accuracy of the MONA.health artificial intelligence (AI) software (Version 1.0.0; MONA.health, Leuven, Belgium) and compare its advantages in screening for diabetic retinopathy (DR) and diabetic macular edema (DME) with standard fundus photography. Methods: This cross-sectional, real-life instrument validation study was conducted at the Vuk Vrhovac University Clinic in Zagreb during routine DR screening and included 296 patients (592 eyes) with diabetes. Following standard fundus photography using a 45° Zeiss VISUCAM NM/FA camera (Carl Zeiss Meditec AG, Jena, Germany), each patient also underwent imaging with an automated portable retinal camera (NFC-600, Crystalvue Ophthalmic Instruments, Taoyuan City, Taiwan). Two retina specialists independently graded images from the standard camera, while images from the NFC-600 were analyzed using the MONA.health AI software. Results: Among the 592 eyes, human grading identified 81 with any DR, including 17 with mild NPDR, 64 with referable DR (moderate/severe NPDR or PDR), and 13 with DME. The MONA.health AI software identified 65 eyes with referable DR and 19 with DME. For MONA DR screening compared to the standard fundus camera, the area under the curve, sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, negative likelihood ratio, kappa agreement, diagnostic odds ratio, and diagnostic effectiveness were 99.74%, 100%, 99.81%, 99.33%, 100%, 528.00, 0.00, 0.99, infinity, and 99.85%, respectively. For MONA DME screening, these metrics were 97.97%, 100%, 98.95%, 85.93%, 100%, 95.67, 0.00, 0.81, infinity, and 99.02%, respectively. The MONA AI screening process required 1 day of training and approximately 5 min for image capture and analysis, compared to 7 days of training and 13 min for image acquisition and grading with the standard method. Conclusions: These findings demonstrate that the MONA.health AI software matches the accuracy of standard fundus photography for screening and early detection of referable DR and DME, while offering a faster, simpler, and more user-friendly workflow that significantly reduces the time to obtain screening results. Full article
(This article belongs to the Special Issue Innovative Diagnostic Approaches in Retinal Diseases)
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11 pages, 352 KB  
Article
The Use of CSF Multiplex PCR Panel in Patients with Viral Uveitis
by Young Hwan Jeong, Su Hwan Park, Seung Min Lee, Iksoo Byon, Jongyoun Yi and Sung-Who Park
Diagnostics 2026, 16(1), 143; https://doi.org/10.3390/diagnostics16010143 - 1 Jan 2026
Viewed by 525
Abstract
Background/Objectives: Polymerase chain reaction (PCR) testing of ocular fluids is an essential diagnostic method for identifying infectious causes of uveitis. However, multiplex PCR kits specifically developed for ophthalmic use are not commercially available in many regions, including Korea. Given the biochemical similarity [...] Read more.
Background/Objectives: Polymerase chain reaction (PCR) testing of ocular fluids is an essential diagnostic method for identifying infectious causes of uveitis. However, multiplex PCR kits specifically developed for ophthalmic use are not commercially available in many regions, including Korea. Given the biochemical similarity between cerebrospinal fluid (CSF) and aqueous humor, this study evaluated the diagnostic utility of a commercially available CSF multiplex PCR panel for detecting herpesviruses in patients with suspected viral uveitis. Methods: We retrospectively reviewed the medical records of patients whose aqueous humor samples were analyzed using a multiplex PCR assay originally designed for CSF testing (Seeplex Meningitis-V1 ACE Detection kit, Seegene, Seoul, Republic of Korea). The samples were obtained between May 2019 and June 2023 at two tertiary referral hospitals. The assay targeted herpes simplex virus types 1 and 2 (HSV-1, HSV-2), varicella-zoster virus (VZV), cytomegalovirus (CMV), Epstein–Barr virus (EBV), and human herpesvirus 6 (HHV-6). Patients were classified into three groups: (I) anterior uveitis with suspected herpesviral infection, (II) acute retinal necrosis (ARN), and (III) CMV retinitis. Baseline characteristics, PCR positivity rates, and virus prevalence were compared among the groups. Results: Among 149 eyes tested, 86 were included in the final analysis. The overall positivity rate was 38.4%. PCR positivity was 19.7% (12/61) in Group I, 93.8% (15/16) in Group II, and 66.7% (6/9) in Group III. CMV was the most common pathogen in Groups I (66.7%) and III (100%), while VZV was predominant in Group II (80%). No HHV-6 infection was detected. Conclusions: The positivity rate in anterior uveitis (Group I) was lower than previously reported, likely due to the limited sample volume relative to the assay’s requirement. Nevertheless, the assay demonstrated diagnostic reliability comparable to previous reports for ARN and CMV retinitis. Therefore, the CSF-based multiplex PCR panel serves as a feasible and cost-effective diagnostic option for sight-threatening posterior segment infections, facilitating prompt diagnosis and treatment, although further optimization is warranted for anterior uveitis. Full article
(This article belongs to the Special Issue Innovative Diagnostic Approaches in Retinal Diseases)
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12 pages, 2451 KB  
Article
Effect of Cataracts on Hydroxychloroquine Retinopathy Screening
by Ji Soo Kang, Seong Joon Ahn and Yu Jeong Kim
Diagnostics 2025, 15(21), 2736; https://doi.org/10.3390/diagnostics15212736 - 28 Oct 2025
Viewed by 910
Abstract
Background/Objectives: To evaluate the modality-specific impact of cataracts on the detection of hydroxychloroquine retinopathy. Methods: In this retrospective cohort study, 202 eyes (101 patients) with confirmed HCQ retinopathy were included; analyses focused on 141 cataractous eyes from 72 patients. At each visit, the [...] Read more.
Background/Objectives: To evaluate the modality-specific impact of cataracts on the detection of hydroxychloroquine retinopathy. Methods: In this retrospective cohort study, 202 eyes (101 patients) with confirmed HCQ retinopathy were included; analyses focused on 141 cataractous eyes from 72 patients. At each visit, the severity of cataracts in 141 eyes was graded using the Lens Opacities Classification System III (LOCS III), with clinically significant cataracts defined as a LOCS III grade ≥ 3. Screening was performed using swept source optical coherence tomography (OCT), ultrawide field fundus autofluorescence (FAF), and Humphrey visual field (HVF) tests. The detection rates of abnormalities on OCT, FAF, and HVF were compared between minimal (at the time of diagnosis or after cataract surgery) and maximal cataract severity as well as between eyes with clinically significant cataracts and others. Multivariate logistic regression was performed to identify the factors associated with the detection of retinopathy-associated abnormalities across each screening modality. Results: Of the 141 eyes with cataracts, 52 (36.9%) developed clinically significant opacities during the monitoring period, and 23 (16.3%) underwent cataract surgery. OCT detected ellipsoid zone disruptions in 100% of cataractous eyes, while visual fields revealed characteristic paracentral scotomas with comparable sensitivity regardless of cataract severity. In contrast, FAF sensitivity was significantly lower in eyes with clinically significant cataracts (61.5%) compared to those with mild cataracts (92.1%, p < 0.001). Sensitivities were also reduced at maximal versus minimal severity in eyes with clinically significant cortical opacities and nuclear opalescence (both p < 0.05). Multivariate analysis demonstrated that higher cortical opacity (odds ratio [OR] 0.43 per grade increase, 95% CI 0.22–0.85) and nuclear opalescence (OR 0.21, 95% CI 0.07–0.66) independently decreased FAF detection, whereas greater retinopathy severity was positively associated with detection on both FAF (OR 4.85, 95% CI 1.40–16.9) and HVF (OR 3.37, 95% CI 1.17–9.71). Conclusions: Cataracts impaired the FAF-based detection of hydroxychloroquine retinopathy, while OCT and HVF remained reliable despite significant lens opacities. Therefore, clinicians should consider cataract severity when interpreting FAF results and prioritize OCT and HVF assessments in patients with clinically significant cataracts. Full article
(This article belongs to the Special Issue Innovative Diagnostic Approaches in Retinal Diseases)
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12 pages, 1042 KB  
Article
Steady-State PERG Adaptation Reveals Temporal Abnormalities of Retinal Ganglion Cells in Treated Ocular Hypertension and Glaucoma
by Tommaso Salgarello, Andrea Giudiceandrea, Grazia Maria Cozzupoli, Martina Cocuzza, Romolo Fedeli, Donato Errico, Antonello Fadda, Filippo Amore, Marco Sulfaro, Epifanio Giudiceandrea, Matteo Salgarello, Stanislao Rizzo and Benedetto Falsini
Diagnostics 2025, 15(14), 1797; https://doi.org/10.3390/diagnostics15141797 - 16 Jul 2025
Viewed by 784
Abstract
Background/Objectives: This study investigates adaptive changes in long-lasting pattern electroretinogram (PERG) responses in ocular hypertension (OHT) and open-angle glaucoma (OAG) patients, and in healthy subjects. Methods: Sixty consecutive individuals were recruited, including 20 OHT, 20 OAG, and 20 normal subjects. All participants underwent [...] Read more.
Background/Objectives: This study investigates adaptive changes in long-lasting pattern electroretinogram (PERG) responses in ocular hypertension (OHT) and open-angle glaucoma (OAG) patients, and in healthy subjects. Methods: Sixty consecutive individuals were recruited, including 20 OHT, 20 OAG, and 20 normal subjects. All participants underwent comprehensive ophthalmologic examination, 30–2 perimetry, and retinal nerve fiber layer imaging. Steady-state (7.5 Hz) PERGs were recorded over approximately 2 min, in response to 90% contrast alternating gratings within a large field size. The recordings were acquired into a sequence of 10 averages (packets), lasting 10 s each, following a standardized adaptation paradigm (Next Generation PERG, PERGx). Key outcome measures included PERGx parameters reflecting response amplitude and phase changes over time. Results: The PERGx grand average scalar amplitude, a surrogate of ordinary PERG, was significantly reduced in both OHT and OAG groups compared to normal subjects (p < 0.01). In contrast, minimal adaptation changes were noted in PERGx amplitude among all groups. The PERGx phase exhibited a progressive decline over time, with consistent delays of approximately 20 degrees across all groups. Angular dispersion of the PERGx phase increased significantly in OHT patients compared to normal subjects (p < 0.05). An inverse relationship was observed between PERGx angular dispersion and treated intraocular pressure, specifically in OHT patients. Conclusions: The findings suggest that both OHT and OAG eyes may exhibit temporal abnormalities in PERG adaptation, potentially indicating early dysfunction in retinal ganglion cell activity. Translational Relevance: PERGx phase changes may have significant implications for glaucoma early detection and management. Full article
(This article belongs to the Special Issue Innovative Diagnostic Approaches in Retinal Diseases)
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12 pages, 4070 KB  
Case Report
Resolved Central Serous Chorioretinopathy Mimicking Hydroxychloroquine Toxicity: A Case Series and Literature Review
by Seong Joon Ahn
Diagnostics 2025, 15(17), 2154; https://doi.org/10.3390/diagnostics15172154 - 26 Aug 2025
Viewed by 1883
Abstract
Background and Clinical Significance: Central serous chorioretinopathy (CSCR) and hydroxychloroquine (HCQ) retinopathy can both cause outer retinal changes in systemic lupus erythematosus (SLE) patients treated with HCQ and corticosteroids. Differentiating between transient steroid-induced CSCR and irreversible HCQ toxicity is critical to avoid [...] Read more.
Background and Clinical Significance: Central serous chorioretinopathy (CSCR) and hydroxychloroquine (HCQ) retinopathy can both cause outer retinal changes in systemic lupus erythematosus (SLE) patients treated with HCQ and corticosteroids. Differentiating between transient steroid-induced CSCR and irreversible HCQ toxicity is critical to avoid unnecessary discontinuation of essential therapy. Case Presentation: Three female SLE patients (ages 47, 41, and 37) on long-term HCQ (25, 9, and 6 years, respectively) and recent or ongoing low-dose prednisolone presented with unilateral OCT findings, parafoveal or pericentral photoreceptor defects, with the fellow eye unaffected. Review of clinical history and serial imaging revealed transient subretinal fluid in all cases, associated with recent corticosteroid use or dose escalation. Subsequent tapering or cessation of steroids led to resolution of the fluid, and earlier OCT scans confirmed normal outer retinal morphology, indicating that these changes were residual effects of resolved CSCR rather than HCQ toxicity. In Cases 1 and 2, the best-corrected visual acuity (BCVA) in the affected eye declined from 20/22 to 20/40 during the CSCR episode and improved to 20/30 and 20/25, respectively, after subretinal fluid resolution. In Case 3, by contrast, BCVA remained stable at 20/20 throughout the pre-, during-, and post-CSCR periods. Conclusions: Resolved CSCR can mimic HCQ retinopathy. These cases emphasize the importance of detailed medication history, serial multimodal retinal imaging, and comparison with prior and fellow-eye scans to distinguish resolved CSCR from HCQ retinopathy. Such thorough evaluation and careful differential diagnosis help ensure appropriate management—avoiding unnecessary HCQ discontinuation while protecting both ocular and systemic health. Full article
(This article belongs to the Special Issue Innovative Diagnostic Approaches in Retinal Diseases)
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