Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.

ABSTRACT:

Background

Retinal 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 with ROSAH syndrome.

Methods

Retrospective chart review, whole exome sequencing.

Results

A 16-year-old male presented with bilateral optic disc edema, macular edema, retinal degeneration, and vitreous inflammation. His mother and brother had similar clinical features. Whole exome gene sequencing identified a shared heterozygous mutation in the ALPK1 gene c.710C>T, consistent with ROSAH syndrome. Ophthalmic manifestations in this family included optic nerve edema, macular e

SUBMITTER: Shunyakova J 

PROVIDER: S-EPMC11975653 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature