ReviewFrontiers in ophthalmology2024
Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.
Review in Frontiers in ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy.Journal of clinical immunology · 2026Article
- Irreversible Ocular and Systemic Damage in ROSAH Syndrome.Ophthalmology and therapy · 2026Article
- Enhancing ocular sign detection: AI-based strategic segmentation for improved accuracy and privacy protection.NPJ digital medicine · 2026Article
- Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy.Case reports in endocrinology · 2026Article
- Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.Orphanet journal of rare diseases · 2025Article
- Mycobacterium tuberculosis Infection of Retinal Endothelial Cells Induces Interferon Signaling Activation: Insights Into Tubercular Retinal Vasculitis.Investigative ophthalmology & visual science · 2025Article
- Neglected adult PFAPA syndrome.Radiology case reports · 2025Article
- Immune function analysis in a pediatric patient with aFrontiers in immunology · 2025Article
- Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.Frontiers in ophthalmology · 2025Article
- Blau Syndrome (Juvenile Systemic Granulomatosis): State-Of-The-Art Review.Pediatric dermatologyReview
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Authors and funding
11 authors.
Funding
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Abstract
Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still's disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.
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