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Article

ROSAH syndrome mimicking chronic uveitis.

Clinical genetics - 1 Apr 2023

Fardeau Christine, Alafaleq Munirah, Dhaenens Claire-Marie, Dollfus Hélène, Koné-Paut Isabelle, Grunewald Olivier, Morel Jean-Baptiste, Titah Cherif, Saadoun David, Lazeran Patrice Olivier, Meunier Isabelle

Abstract excerpt

To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene....

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Identifiers

PMID: 36543582
DOI: 10.1111/cge.14286

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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