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

PURPOSE: We 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. DESIGN: Single-center observational case study. PARTICIPANTS: Eleven patients with a diagnosis of ROSAH...

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Detalles Bibliográficos
Autores principales: Huryn, Laryssa A., Kozycki, Christina Torres, Serpen, Jasmine Y., Zein, Wadih M., Ullah, Ehsan, Iannaccone, Alessandro, Williams, Lloyd B., Sobrin, Lucia, Brooks, Brian P., Sen, H. Nida, Hufnagel, Robert B., Kastner, Daniel L., Kodati, Shilpa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038920/
https://www.ncbi.nlm.nih.gov/pubmed/36332842
http://dx.doi.org/10.1016/j.ophtha.2022.10.026

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