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

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: 10 September 2025 | Viewed by 734

Special Issue Editors


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Guest Editor
Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Interests: ocular biomarkers; visual outcomes; retinal detachment; keratoplasty; neurotrophic keratitis; digital twins; proliferative vitreoretinopathy

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Guest Editor
Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Interests: corneal diseases; retinal biomarkers; neurofibromatosis; miRNA expression; neurotrophic keratitis; sirtuins; visual outcomes.

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

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Keywords

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

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Published Papers (1 paper)

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Review

15 pages, 1484 KiB  
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
Viewed by 531
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
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