ArticleOphthalmology2023
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Article in Ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2025Pooled it
- Article
- Irreversible Ocular and Systemic Damage in ROSAH Syndrome.Ophthalmology and therapy · 2026Article
- Loss of alpha-kinase 1 contributes to the formation of congenital cataracts in mice.Cellular & molecular biology letters · 2025Article
- Tocilizumab as a treatment tool for ROSAH syndrome: a case report.Journal of ophthalmic inflammation and infection · 2025Article
- Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.Journal of clinical medicine · 2025Article
- Discovery of a selective alpha-kinase 1 inhibitor for the rare genetic disease ROSAH syndrome.Nature communications · 2025Article
- Hyperinflammation and Blindness. Screening for ROSAH Syndrome.European journal of case reports in internal medicine · 2025Article
- Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.Frontiers in ophthalmology · 2025Article
- Article
- Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology.Eye (London, England) · 2024Review
- Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network.Ophthalmology and therapy · 2024Article
- Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.Frontiers in ophthalmology · 2024Review
- ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children.Ocular immunology and inflammation · 2023Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
purposeWe aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and their response to therapy.
designSingle-center observational case study.
participantsEleven patients with a diagnosis of ROSAH syndrome and mutation in ALPK1 were included.
methodsPatients with molecularly confirmed ROSAH syndrome underwent ophthalmic evaluation, including visual acuity testing, slit-lamp and dilated examinations, color fundus and autofluorescence imaging, fluorescein angiography, OCT, and electrophysiologic testing.
main outcome measuresVisual acuity, electrophysiology, fluorescein angiography, and OCT findings.
resultsEleven individuals (6 female and 5 male patients) from 7 families ranging in age from 7.3 to 60.2 years at the time of the initial evaluation were included in this study. Seven patients were followed up for a mean of 2.6 years (range, 0.33-5.0 years). Best-corrected visual acuity at baseline ranged from 20/16 to no light perception. Variable signs or sequelae of intraocular inflammation were observed in 9 patients, including keratic precipitates, band keratopathy, trace to 2+ anterior chamber cells, cystoid macular edema, and retinal vasculitis on fluorescein angiography. Ten patients were observed to show optic disc elevation and demonstrated peripapillary thickening on OCT. Seven patients showed retinal degeneration consistent with a cone-rod dystrophy, with atrophy tending to involve the posterior pole and extending peripherally. One patient with normal electroretinography findings and visual evoked potential was found to have decreased Arden ratio on electro-oculography.
conclusionsLeveraging insights from the largest single-center ROSAH cohort described to date, this study identified 3 main factors as contributing to changes in visual function of patients with ROSAH syndrome: optic nerve involvement; intraocular inflammation, including cystoid macular edema; and retinal degeneration. More work is needed to determine how to arrest the progressive vision loss associated with ROSAH syndrome. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.
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