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Article

Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.

American journal of ophthalmology - 1 Jul 2022

Kaushik Sushmita, Choudhary Sandeep, Kaur Anupriya, Srivastava Priyanka, Pokharel Bikrant, Akella Madhuri, Pandav Surinder Singh

Abstract excerpt

PURPOSE: To report underlying genetic variants of recently described distinct phenotype of newborn glaucoma: neonatal-onset congenital ectropion uveae (NO-CEU). DESIGN: Prospective cohort study. METHODS: Setting: tertiary care teaching institute. SUBJECTS: Thirteen children with clinical diagnosis of NO-CEU who had completed 1-year follow-up after glaucoma surgery and had undergone clinical exome sequencing (CES)...

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PMID: 35085548
DOI: 10.1016/j.ajo.2022.01.014

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