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c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.

Cornea - 1 Jan 2022

Janeschitz-Kriegl Lucas, Kamdar Dhryata, Quinodoz Mathieu, Kaminska Karolina, Folcher Marc, György Bence, Meyer Peter, Wild Andreas, Escher Pascal, Scholl Hendrik P N, Rivolta Carlo, Goldblum David

Abstract excerpt

PURPOSE: The purpose of this study was to investigate the clinical and genetic features of a man and his daughter with posterior polymorphous corneal dystrophy (PPCD), referred to our clinic for Descemet membrane endothelial keratoplasty. No other known relatives were affected. METHODS: Ophthalmic examination and histology, including electron microscopy, were performed. Genetic testing was conducted by means of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34469340
DOI: 10.1097/ICO.0000000000002843

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c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.PMID 34469340Read ↗

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.Semantic proximity Read ↗

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