Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy-Reference-Cited by-同舟云学术

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

Published:2023-04 Issue:4 Volume:130 Page:423-432
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

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

Funder

National Eye Institute

National Institute of Allergy and Infectious Diseases

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Ophthalmology

Reference24 articles.

1. Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1;Zhong;J Clin Immunol,2020

2. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder;Williams;Genet Med,2019

3. An inherited disorder with splenomegaly, cytopenias, and vision loss;Tantravahi;Am J Med Genet A,2012