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Article

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.

Medicina (Kaunas, Lithuania) - 2 Jan 2023

Tronina Agnieszka, Świerczyńska Marta, Filipek Erita

Abstract excerpt

Background: Mowat-Wilson syndrome (MWS) is extremely rare multisystemic autosomal dominant disorder caused by mutations in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well...

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Identifiers

PMID: 36676725
DOI: 10.3390/medicina59010101
PMCID: PMC9864246

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