Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges

Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges

BackgroundRetinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder caused by a heterozygous missense mutation in alpha kinase 1 (ALPK1). This series reports the presentation and treatment outcomes of three first-degree relatives...

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Bibliographic Details
Main Authors: Jenny Shunyakova, Margaret Reynolds, Amal Taylor, Erin G. Sieck, James T. Walsh, Lynn M. Hassman
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Ophthalmology
Subjects:
ALPK1
ROSAH
optic disc edema
uveitis
retinal degeneration
Online Access:https://www.frontiersin.org/articles/10.3389/fopht.2025.1535805/full
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