Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

Huryn, Laryssa A.; Kozycki, Christina; Serpen, Jasmine; Zein, Wadih M.; Ullah, Ehsan; Iannaccone, Alessandro; Williams, Lloyd; Sobrin, Lucia; Brooks, Brian P.; Sen, H. Nida; Hufnagel, Robert B.; Kastner, Daniel L.; Kodati, Shilpa

doi:10.1016/j.ophtha.2022.10.026

Cited by 7 publications

(6 citation statements)

References 24 publications

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“…Ocular manifestations in ROSAH syndrome are accompanied by systemic features including recurrent low-grade fever, malaise, arthralgia, deforming arthritis, abdominal pain, headache due to meningeal inflammation, and premature cerebral mineralization of the basal ganglia, substantia nigra and red nuclei. Other clinical manifestations include multiple dental caries with hypoplasia of dental enamel and short dental roots, dry mouth, inability to sweat or lactate and splenomegaly (83,85). Laboratory changes are characterized by a highly variability in CRP levels in untreated patients, and transitory increases in CRP levels without correlation with disease activity.…”

Section: Eye Diseasementioning

confidence: 99%

“…Among anti-cytokine agents, tocilizumab has been reported with the highest efficacy in controlling ocular and systemic manifestations, even in cases refractory to conventional immunosuppressive drugs, and anti-IL-1/TNF agents. The potential effect of JAK inhibitors has not been proven yet (83,85).…”

Section: Eye Diseasementioning

confidence: 99%

“…One patient with a normal electroretinography and visual evoked potential results had decreased Arden ratio on electrooculography. This study identified three principal risk factors for visual deterioration in patients with ROSAH syndrome: a) optic nerve involvement; b) intraocular inflammation (including cystoid macular edema); and c) retinal degeneration (85). Bilateral granulomatous anterior and intermediate uveitis with papillitis associated with retinal dystrophy features have been also described in a patient with ROSAH syndrome (86).…”

Section: Eye Diseasementioning

confidence: 99%

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Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Fonollosa,

Carreño,

Vitale

et al. 2024

Front. Ophthalmol.

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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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Section: Eye Diseasementioning

confidence: 99%

Section: Eye Diseasementioning

confidence: 99%

Section: Eye Diseasementioning

confidence: 99%

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Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Fonollosa,

Carreño,

Vitale

et al. 2024

Front. Ophthalmol.

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“…ALPK1 activation leads to the activation of NF-κB, a pathway known to be altered in other autoinflammatory diseases, including haploinsufficiency of A20 (HA20), haploinsufficiency of RELA, Blau syndrome, and Behcet disease. Interestingly, uveitis is associated with several of these conditions [36,37 ▪ ]. Anti-TNF therapy and other biologics, including anti-IL-1 and anti-IL-6 therapies, have shown partial efficacy [35 ▪ ].…”

Section: Rosah Syndromementioning

confidence: 99%

“…Anti-TNF therapy and other biologics, including anti-IL-1 and anti-IL-6 therapies, have shown partial efficacy [35 ▪ ]. IL-6 directed therapy may be more effective [36], for ocular features.…”

Section: Rosah Syndromementioning

confidence: 99%

Update on autoinflammatory diseases

Ashari

Hausmann

Dedeoğlu

2023

Current Opinion in Rheumatology

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Purpose of review Although the concept of systemic autoinflammatory diseases (SAIDs) is still very young, our knowledge about them is exponentially growing. In the current review, we aim to discuss novel SAIDs and autoinflammatory pathways discovered in the last couple of years. Recent findings Advances in immunology and genetics have led to the discovery of new pathways involved in autoinflammation, as well as several new SAIDs, including retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH syndrome), vacuoles, E1 enzyme, X-linked autoinflammatory somatic (VEXAS) syndrome, TBK1 deficiency, NEMO deleted exon 5 autoinflammatory syndrome (NDAS), and disabling pansclerotic morphea. Progress in immunobiology and genetics has also brought forth novel treatments for SAIDs. Personalized medicine has made significant progress in areas such as cytokine-targeted therapies and gene therapies. However, much work remains, especially in measuring and improving the quality of life in patients with SAIDs. Summary In the current review, we discuss the novelties in the world of SAIDs, including mechanistic pathways of autoinflammation, pathogenesis, and treatment. We hope this review helps rheumatologists to gain an updated understanding of SAIDs.

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Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network

Gaggiano,

Gupta,

Agrawal

et al. 2023

Ophthalmol Ther

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Introduction This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. Methods This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering ≥ 50% of the survey. Results Seventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2 , 3.9% mentioned NLRP3 or MEFV , and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams ( p < 0.01). Genetic testing was ordered for suspected mU by 41.6% of physicians. The availability of molecular techniques did not significantly differ based on geography ( p > 0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances ( p < 0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-α inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 ( p < 0.01) and interleukin-6 ( p < 0.01) inhibitors. Conclusions This survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network—IUSG unified effort to advance scientific knowledge and clinical practice. Supplementary Information The online version contains supplementary material available at 10.1007/s40123-023-00839-1.

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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

Cited by 7 publications

References 24 publications

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Update on autoinflammatory diseases

Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network

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