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Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases

A Special Issue of Journal of Clinical Medicine (ISSN 2077-0383) belonging to the section "Ophthalmology".

Deadline for manuscript submissions: closed (27 March 2026) | Viewed by 23358

Editors

Dr. Giacomo Visioli

E-Mail Website
Guest Editor
Ophthalmology Unit, San Giovanni Addolorata Hospital, Rome, Italy
Interests: ocular biomarkers; visual outcomes; retinal detachment; keratoplasty; neurotrophic keratitis; digital twins; proliferative vitreoretinopathy
Special Issues, Collections and Topics in MDPI journals
Dr. Alisi Ludovico

E-Mail Website
Guest Editor
Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Interests: glaucoma; neurofibromatosis; miRNA expression; neurotrophic keratitis; sirtuins; statistics
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Alessandro Lambiase

E-Mail Website
Guest Editor
Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Interests: nerve growth factor; corneal stem cells; ocular surface; neurotrophic keratitis; dry eye syndrome; vernal keratoconjunctivitis; limbal stem cell deficiency.

Special Issue Information

Dear Colleagues,

Despite its accessibility and unique anatomical complexity, the eye’s potential as an early diagnostic window into systemic, genetic, and infectious diseases is frequently underestimated. This Special Issue will explore how the ocular surface, retina, and choroid—three structures with distinct cellular and functional characteristics— could serve as mirrors of systemic health. The ocular surface, reflecting both immune and metabolic states, may indicate underlying autoimmune dysfunctions, endocrine dysfunctions, or infectious conditions such as viral keratitis or conjunctivitis linked to systemic infections. The retina, as an extension of the central nervous system, can reveal early neurodegenerative changes, vascular pathologies, and infectious processes such as those caused by toxoplasmosis or syphilis. Meanwhile, the abundantly vascularized choroid offers insight into inflammatory, rheumatological, cardiovascular, and infectious disorders, including tuberculosis and fungal infections. By bringing together research that spans from molecular biomarkers to advanced imaging techniques, this Special Issue aims to foster a more integrated perspective on ocular assessment, ultimately improving the early detection, management, and prognosis of a broad range of systemic, genetic, and infectious diseases.

Dr. Giacomo Visioli
Dr. Alisi Ludovico
Prof. Dr. Alessandro Lambiase
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-anonymized 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

  • ocular surface
  • retina
  • choroid
  • systemic diseases
  • genetic conditions
  • biomarkers
  • diagnostic imaging
  • neuroretina
  • infectious diseases

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Related Special Issue

Published Papers (7 papers)

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Review

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17 pages, 3842 KB  
Review
Nose-to-Eye Delivery: The Potential of Intranasal Administration in Ophthalmology
by Maria Letizia Adezio, Danilo Iannetta, Gianluca Manni, Giacomo Visioli, Gloria Roberti and Ludovico Alisi
J. Clin. Med. 2026, 15(13), 5029; https://doi.org/10.3390/jcm15135029 - 27 Jun 2026
Viewed by 588
Abstract
Non-invasive drug delivery for ocular diseases remains a significant challenge in ophthalmology, as conventional eye drops offer less than 5% bioavailability due to pre-corneal barriers and the corneal epithelium. This review explores the intranasal (IN) route as a promising strategy for targeting both [...] Read more.
Non-invasive drug delivery for ocular diseases remains a significant challenge in ophthalmology, as conventional eye drops offer less than 5% bioavailability due to pre-corneal barriers and the corneal epithelium. This review explores the intranasal (IN) route as a promising strategy for targeting both the anterior and posterior segments of the eye. The IN route leverages several distinct pathways: the nasolacrimal reflex for remote physiological stimulation; the “neural bridge” through the cribriform plate, allowing direct perineural and vascular transport via the olfactory and trigeminal nerves to bypass the blood–retinal barrier; and systemic absorption that avoids hepatic first-pass metabolism. Pre-clinical evidence indicates that IN administration of agents such as erythropoietin, nerve growth factor, and insulin achieves superior retinal concentrations compared to topical or systemic dosing, offering neuroprotection in models of retinal degeneration and glaucoma. Clinically, varenicline nasal spray is already FDA-approved for dry eye disease, while intranasal steroids demonstrate a favorable ocular safety profile without significantly increasing intraocular pressure. Although limited by mucociliary clearance and small delivery volumes, the IN route offers a painless, non-invasive alternative to intraocular injections, potentially enhancing patient compliance. Future advancements in mucoadhesive nanocarriers are essential to optimize drug residence time and realize the full potential of nose-to-eye delivery in chronic ophthalmic care. Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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17 pages, 959 KB  
Review
Applications of Photopic Negative Response: A Narrative Review
by Minzhong Yu, Nara Shakaki and Anas Bakdalieh
J. Clin. Med. 2026, 15(9), 3527; https://doi.org/10.3390/jcm15093527 - 5 May 2026
Viewed by 626
Abstract
Background: The photopic negative response (PhNR) of the full-field electroretinogram is a retinal ganglion cell-weighted functional signal increasingly proposed as a clinical biomarker. Despite extensive study across ocular and systemic diseases, its precise clinical role and incremental value remain incompletely established. Methods [...] Read more.
Background: The photopic negative response (PhNR) of the full-field electroretinogram is a retinal ganglion cell-weighted functional signal increasingly proposed as a clinical biomarker. Despite extensive study across ocular and systemic diseases, its precise clinical role and incremental value remain incompletely established. Methods: This narrative review synthesizes key human studies of the photopic negative response, with emphasis on physiological basis, recording methodology, and clinical contexts in which PhNR may provide added functional insight. Results: In glaucoma, PhNR provides an objective measure of retinal ganglion cell dysfunction that correlates moderately with optical coherence tomography (OCT)-derived structural loss and visual field indices, but with substantial inter-individual variability. Its greatest clinical utility lies in early disease detection, cross-sectional functional assessment, and documenting short-term functional changes following intraocular pressure reduction, rather than longitudinal progression monitoring. Beyond glaucoma, PhNR reveals inner retinal dysfunction in systemic and genetic conditions, particularly idiopathic intracranial hypertension and diabetes, where retinal ganglion cells may reflect broader neurological or metabolic stress. Conclusions: PhNR is best viewed not as a standalone diagnostic or progression tool, but as a complementary functional biomarker that adds objective insight when structural imaging or psychophysical testing is limited or discordant. Its role aligns closely with the retina’s emerging function as a mirror of systemic and genetic disease, provided recordings are standardized and results interpreted cautiously. Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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12 pages, 2258 KB  
Review
Multifocal Ocular Manifestations Heralding Relapse of Acute Myeloid Leukemia: A Case Report and Literature Review
by Elvia Mastrogiuseppe, Maria Carmela Saturno, Clara Minotti, Martina Angi and Marco Marenco
J. Clin. Med. 2025, 14(21), 7506; https://doi.org/10.3390/jcm14217506 - 23 Oct 2025
Cited by 3 | Viewed by 2127
Abstract
This case-based review examines the spectrum of leukemic ocular involvement, focusing on its prognostic implications. A rare case of relapsed acute myeloid leukemia (AML) in a 63-year-old man is presented, featuring simultaneous orbital proptosis, adnexal involvement, choroidal and retinal infiltration, and hemorrhagic changes [...] Read more.
This case-based review examines the spectrum of leukemic ocular involvement, focusing on its prognostic implications. A rare case of relapsed acute myeloid leukemia (AML) in a 63-year-old man is presented, featuring simultaneous orbital proptosis, adnexal involvement, choroidal and retinal infiltration, and hemorrhagic changes affecting both the anterior and posterior segments. This constellation of findings, affecting multiple ocular structures concurrently, highlights the eye’s potential role as a sanctuary site for leukemic cells and underscores the diagnostic challenge of distinguishing direct infiltration from treatment-related or secondary vascular damage. This case, integrated with a literature review, emphasizes that multifocal ocular signs may serve as early indicators of leukemic relapse and reinforce the need for close collaboration between ophthalmologists and hematologists in guiding patient management. Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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23 pages, 1024 KB  
Review
Visual Function in Alzheimer’s Disease: Current Understanding and Potential Mechanisms Behind Visual Impairment
by Tania Alvite-Piñeiro, Maite López-López, Uxía Regueiro, Juan Manuel Pías-Peleteiro, Tomás Sobrino and Isabel Lema
J. Clin. Med. 2025, 14(17), 5963; https://doi.org/10.3390/jcm14175963 - 23 Aug 2025
Cited by 9 | Viewed by 3986
Abstract
Alzheimer’s disease (AD) is the leading cause of dementia worldwide and is becoming one of the most morbid diseases of this century. Recently, ocular research in AD has gained significance, as the eye, due to its close relationship with the brain, can reflect [...] Read more.
Alzheimer’s disease (AD) is the leading cause of dementia worldwide and is becoming one of the most morbid diseases of this century. Recently, ocular research in AD has gained significance, as the eye, due to its close relationship with the brain, can reflect the presence of neurological disorders. Several studies have reported alterations in various ocular structures in AD, ranging from tear fluid to the retina. These changes, particularly in the retina and the optic nerve, along with cerebral atrophy affecting visual brain areas, may lead to visual dysfunctions. This narrative review summarizes and critically examines current evidence on these impairments and explores their possible underlying mechanisms. A decrease in visual acuity, contrast sensitivity, and color vision has been observed, primarily associated with retinal ganglion cell loss or damage. Furthermore, alterations in the visual field, ocular motility, and visual perception have been recorded, mainly resulting from cortical changes. These optical parameters frequently correlate with patients’ cognitive status. In conclusion, these findings highlight the importance of developing strategies to preserve visual function in these patients, helping to prevent further deterioration in their quality of life, and emphasize the potential of visual function assessment as a tool for diagnosis or predicting AD progression. Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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26 pages, 8730 KB  
Review
State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics
by Marcella Nebbioso, Marco Artico, Magda Gharbiya, Alice Mannocci, Paolo Giuseppe Limoli, Danilo Iannetta and Luigi Donato
J. Clin. Med. 2025, 14(10), 3526; https://doi.org/10.3390/jcm14103526 - 18 May 2025
Cited by 7 | Viewed by 5627
Abstract
Inherited retinal dystrophies (IRDs) represent a group of heterogeneous disorders caused by gene mutations primarily affecting retinal photoreceptors. In addition to vision loss, other symptoms may lead to visual impairment, such as altered visual fields, hemeralopia, glare sensitivity, and impaired color vision. These [...] Read more.
Inherited retinal dystrophies (IRDs) represent a group of heterogeneous disorders caused by gene mutations primarily affecting retinal photoreceptors. In addition to vision loss, other symptoms may lead to visual impairment, such as altered visual fields, hemeralopia, glare sensitivity, and impaired color vision. These conditions almost always complicate with the onset of cataracts, macular edema or atrophy, glaucoma, etc. A brief overview of key genes involved in the most common and well-known IRDs is provided, followed by clinical and diagnostic implications. The study of IRDs has seen a significant acceleration in recent decades, owing to advances in molecular genetics with the introduction of exome sequencing (WES) and genome-wide association studies (GWASs), which have facilitated the identification of a broad spectrum of genes associated with IRDs. This has led to the classification of five genetic variants, based on the criteria of the American College of Medical Genetics and Genomics (ACMG), serving as a guide for interpreting genetic reports. Next, approaches to genomic editing therapies and research directions regarding artificial intelligence (AI) and machine learning (ML) are discussed. The paper concludes with an examination of the inevitable ethical and regulatory issues, typically driven by regulatory bodies such as the Food and Drug Administration (FDA). Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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15 pages, 1484 KB  
Review
Ocular Side Effects of Dupilumab: A Comprehensive Overview of the Literature
by Giacomo Boscia, Federico Spataro, Vanessa Desantis, Antonio Giovanni Solimando, Angelo Vacca, Roberto Ria and Alfonso Savastano
J. Clin. Med. 2025, 14(7), 2487; https://doi.org/10.3390/jcm14072487 - 5 Apr 2025
Cited by 13 | Viewed by 8189
Abstract
Dupilumab, a monoclonal antibody targeting the interleukin (IL)-4 receptor alpha subunit and IL-13, has markedly advanced the treatment of atopic conditions such as dermatitis, asthma, and chronic rhinosinusitis. However, its expanding use has brought increased attention to a range of ocular adverse events—conjunctivitis, [...] Read more.
Dupilumab, a monoclonal antibody targeting the interleukin (IL)-4 receptor alpha subunit and IL-13, has markedly advanced the treatment of atopic conditions such as dermatitis, asthma, and chronic rhinosinusitis. However, its expanding use has brought increased attention to a range of ocular adverse events—conjunctivitis, blepharitis, keratitis, corneal ulcers, and cicatricial conjunctivitis—that remain underrecognized and frequently underestimated in clinical practice. These manifestations often emerge in patients with atopic dermatitis and display varying severity, posing diagnostic and therapeutic challenges. Rather than isolated phenomena, these effects appear to stem from a complex interplay of goblet cell depletion, mucin deficiency, immune dysregulation, and microbiome alterations, including Demodex proliferation. Current management strategies remain largely empirical, lacking standardized protocols, and are often guided by anecdotal evidence. In this review, we critically appraise the existing literature, synthesize emerging pathogenic hypotheses, and highlight the unmet clinical need for evidence-based treatment algorithms. We advocate for a multidisciplinary approach and future research aimed at elucidating mechanisms, refining risk stratification, and minimizing ocular toxicity without compromising the therapeutic benefits of dupilumab. Furthermore, we intend to provide a more practical and straightforward resource for the reader based on the current literature on approaching the topic. Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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Other

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20 pages, 862 KB  
Systematic Review
Ophthalmological Microvascular Changes in ANOCA/INOCA Disease and Ophthalmological Methods to Detect Them—A Systematic Review
by Małgorzata Ryk-Adamska, Maciej Janiszewski, Mariusz Tomaniak, Jacek Pawel Szaflik, Przemysław Kasiak and Anna Zaleska-Żmijewska
J. Clin. Med. 2026, 15(4), 1344; https://doi.org/10.3390/jcm15041344 - 8 Feb 2026
Viewed by 886
Abstract
Background/Objectives: Coronary artery disease (CAD) remains one of the leading cardiovascular diseases worldwide. While obstructive CAD is well characterized and managed, identification of patients with non-obstructive CAD (NOCAD) remains challenging. Unlike the coronary vasculature, the eye’s microcirculation can be easily and non-invasively assessed. [...] Read more.
Background/Objectives: Coronary artery disease (CAD) remains one of the leading cardiovascular diseases worldwide. While obstructive CAD is well characterized and managed, identification of patients with non-obstructive CAD (NOCAD) remains challenging. Unlike the coronary vasculature, the eye’s microcirculation can be easily and non-invasively assessed. Therefore, this systematic review summarized the ophthalmological diagnostic methods used to assess microvascular alterations associated with coronary microvascular dysfunction (CMD), angina with non-obstructive coronary arteries (ANOCA), or ischemia with non-obstructive coronary arteries (INOCA). Methods: According to PRISMA guidelines, PubMed/MEDLINE and Embase databases were screened by two independent reviewers from inception to 25 November 2025. Original articles that examined ophthalmological microvascular changes by any method in adults with CMD or its subtypes were included. The quality of the studies was assessed using the JBI Critical Appraisal Checklist. Results: Of 101 identified articles, nine studies met the inclusion criteria, comprising 1894 patients. Optical coherence tomography angiography was the most frequently used imaging modality, followed by optical coherence tomography, slit-lamp smartphone imaging, and fundus photography. Five investigations employed blinded image analysis, three did not, and one study used it partially. Four studies used semi-automated measurements, four employed fully automated methods, and one study applied manual and automated measurements for different parameters. Conclusions: Despite a limited number of studies, retinal and conjunctival microvascular alterations helped differentiate CAD subtypes and may reflect systemic microcirculatory impairment among patients with ANOCA/INOCA. Ophthalmological imaging techniques have the potential to serve as non-invasive tools for detecting microvascular alterations associated with CMD in ANOCA and INOCA patients. PROSPERO Registration Number: CRD420251239875 Full article
(This article belongs to the Special Issue Ocular Surface, Retina, and Choroid as Mirrors of Systemic and Genetic Diseases)
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