Evidence map›Paper›PMID 41880066›Full record

ArticleOphthalmology and therapy2026

Irreversible Ocular and Systemic Damage in ROSAH Syndrome.

Claudia Fabiani, Valeria Caggiano, Jessica Sbalchiero, Carla Gaggiano, Chiara Cardamone, Maddalena De Bernardo, Valentina Giudice, Paolo Moscato, Nicola Rosa, Giuseppe Lopalco and 2 more

Abstract read
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In one paragraph

Article in Ophthalmology and therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Claudia FabianiOphthalmology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy. claudia.fabiani@aidanetwork.org.
Valeria CaggianoRheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy.
Jessica SbalchieroRheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy.
Carla GaggianoRheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy.
Chiara CardamoneDivision of Clinical Immunology and Rheumatology, ERN ReCONNET, (European Reference Network On Connective Tissue and Musculoskeletal Diseases), AOU San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.
Maddalena De BernardoDepartment of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi, Italy.
Valentina GiudiceDepartment of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi, Italy.
Paolo MoscatoDivision of Clinical Immunology and Rheumatology, ERN ReCONNET, (European Reference Network On Connective Tissue and Musculoskeletal Diseases), AOU San Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.
Nicola RosaDepartment of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi, Italy.
Giuseppe LopalcoDepartment of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) Policlinic Hospital, University of Bari, Bari, Italy.
Luca CantariniRheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy. cantariniluca@hotmail.com.ORCID http://orcid.org/0000-0002-7352-1275
Antonio VitaleRheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThis study aimed to describe the clinical, genetic, and pathophysiologic features of four Italian patients from two unrelated families with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome, highlighting novel ocular and systemic manifestations and therapeutic considerations.

methodsWe report detailed phenotypic, ophthalmologic, and systemic findings in four genetically confirmed cases (eight eyes). Special attention was given to ocular and systemic manifestations and complications, inflammatory markers, systemic complications, and treatment responses.

resultsAll eyes exhibited bilateral optic disc and peripapillary involvement, cone-rod retinal dystrophy confirmed by full-field electroretinography and multimodal retinal imaging, low-grade uveitis and retinal vasculitis. Novel findings included keratoconus in one patient and dry eye in all patients. Acute angle-closure glaucoma was also observed in four eyes (two patients) with short axial lengths. Systemically, in addition to the previously described features of fever, splenomegaly, headache, dental anomalies, and anhidrosis, we report the first case of reactive amyloidosis in ROSAH syndrome, leading to severe renal failure and dialysis dependence. Splenectomy resolved recurrent fever in two patients. Conventional immunosuppressants were largely ineffective, whereas interleukin-6 inhibition provided systemic benefit but limited ocular improvement.

conclusionsROSAH syndrome presents with distinctive ocular features, and recognition of ocular surface, corneal and anterior segment anomalies further broadens its phenotypic spectrum. Reactive amyloidosis is a possible complication of ROSAH syndrome, as in other autoinflammatory disorders. Early diagnosis is critical to prevent irreversible ocular and extraocular organ damage, and to guide timely, targeted therapeutic interventions.

Indexed as

Alpha-kinase 1 (ALPK1)AmyloidosisAutoinflammatory diseaseInterleukin-6 inhibitionMonogenic uveitisOptic disc atrophyOptic disc elevationRetinal dystrophyRetinal vasculitis

Identifiers

PMID41880066
PMCPMC13176360

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.