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New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.

Cornea - 1 Jul 2023

García de Oteyza Gonzalo, Fernández Engroba Jorge, Charoenrook Victor

Abstract excerpt

PURPOSE: The aim of this study was to describe the clinical, tomographic, and genetic findings of 2 Spanish siblings with brittle cornea syndrome and report a new mutation of gene ZNF469 implicated in the development of this disorder. METHODS: In this study, 2 male siblings who had been diagnosed with brittle cornea syndrome underwent ophthalmologic and genetic assessment. RESULTS: A novel homozygous deletion...

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PMID: 37098112
DOI: 10.1097/ICO.0000000000003280

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