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Article

Identification of a New Genetic Mutation Associated With Peters Anomaly.

Cornea - 1 Mar 2021

Faber Hanna, Puk Oliver, Holz Anja, Biskup Saskia, Voykov Bogomil

Abstract excerpt

PURPOSE: To report a new genetic mutation in the COL4A1 gene, which was identified in a baby girl with Peters anomaly (PA), a rare anterior segment mesenchymal dysgenesis, which is characterized by unilateral or bilateral corneal opacities often accompanied by glaucoma, cataract, and systemic malformations and associated with various genetic mutations. METHODS: Ophthalmologic examination of one baby girl and...

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Identifiers

PMID: 33284162
DOI: 10.1097/ICO.0000000000002611

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