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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...

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Updated: Mar 27, 2026

Assessment of Oxidative Damage in the Primary Mouse Ocular Surface Cells/Stem Cells in Response to Ultraviolet-C UV-C Damage

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Published on: February 15, 2020

Irreversible Ocular and Systemic Damage in ROSAH Syndrome.

Claudia Fabiani¹, Valeria Caggiano², Jessica Sbalchiero²

¹Ophthalmology 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.

Ophthalmology and Therapy

|March 25, 2026

Summary

This summary is machine-generated.

ROSAH syndrome involves retinal dystrophy and optic nerve issues. Novel findings include keratoconus, dry eye, and reactive amyloidosis, emphasizing early diagnosis for better outcomes.

Keywords:

Alpha-kinase 1 (ALPK1)Amyloidosis Autoinflammatory disease Interleukin-6 inhibition Monogenic uveitis Optic disc atrophy Optic disc elevation Retinal dystrophy Retinal vasculitis

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Published on: February 15, 2022

Area of Science:

Ophthalmology
Genetics
Rheumatology

Background:

ROSAH syndrome is a rare disorder with ocular and systemic manifestations.
Previous descriptions lack detailed clinical, genetic, and pathophysiologic insights.

Purpose of the Study:

To describe the clinical, genetic, and pathophysiologic features of ROSAH syndrome in four Italian patients.
To highlight novel ocular and systemic manifestations and therapeutic considerations.

Main Methods:

Detailed phenotypic, ophthalmologic, and systemic assessments were performed on four genetically confirmed cases.
Ocular and systemic manifestations, complications, inflammatory markers, and treatment responses were analyzed.

Main Results:

Ocular findings include optic disc/peripapillary involvement, cone-rod retinal dystrophy, uveitis, vasculitis, keratoconus, dry eye, and glaucoma.
Systemic findings include reactive amyloidosis leading to renal failure, with splenectomy and IL-6 inhibition showing partial efficacy.

Conclusions:

ROSAH syndrome exhibits diverse ocular features, including anterior segment anomalies.
Reactive amyloidosis is a potential complication, necessitating early diagnosis and targeted interventions to prevent organ damage.