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Article

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Ophthalmic genetics - 1 Feb 2025

Eskander Jessica, Allen Ariana, Yi Zhou Xiao, El-Dairi Mays, Maldonado Ramiro S

Abstract excerpt

INTRODUCTION: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, including nystagmus, strabismus, oculomotor apraxia, and retinopathy have been reported; however, data on retinal involvement and dysfunction is limited. In this...

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Identifiers

PMID: 39572926
DOI: 10.1080/13816810.2024.2426575

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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