ALPK1-Associated ROSAH Syndrome in a Polish Pedigree.

doi:10.3390/genes17080870

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Article

ALPK1-Associated ROSAH Syndrome in a Polish Pedigree.

Genes - 26 Jul 2026

Pietras-Baczewska Agata, Chmiel Adam, Ognik Katarzyna, Rejdak Robert, Nowomiejska Katarzyna

Abstract excerpt

ROSAH syndrome is a rare autosomal dominant autoinflammatory disorder caused by gain-of-function mutations in the ALPK1 gene, characterized by retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache. We present three related female patients (two sisters and their aunt) with a long-standing history of decreased visual acuity, recurring macular oedema, and progressive retinal dystrophy, as...

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PMID: 42650063
DOI: 10.3390/genes17080870
PMCID: PMC13511952

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ALPK1

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