Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants
Elena Franco,
Meghal Gagrani,
Hannah L. Scanga
et al.
Abstract:Purpose:
The aim of this study is to describe the variable phenotype of congenital corneal opacities occurring in patients with biallelic CYP1B1 pathogenic variants.
Methods:
A retrospective chart review was conducted to identify patients with congenital corneal opacities and CYP1B1 pathogenic variants seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, anterior segment optical coherence tomography, histopa… Show more
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