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Article

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts.

Ophthalmic genetics - 1 Apr 2022

Berry Vanita, Pontikos Nikolas, Ionides Alex, Kalitzeos Angelos, Quinlan Roy A, Michaelides Michel

Abstract excerpt

BACKGROUND: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene, CYP21A2, causing autosomal dominant posterior polar cataract. Variants in this gene are known to cause autosomal recessive congenital adrenal hyperplasia (CAH). METHODS: Using whole-exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34748434
DOI: 10.1080/13816810.2021.1998556

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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