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Article

PAX6 disease models for aniridia

30 Nov 2022

Abstract excerpt

Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently. Progressive sight loss can arise from cataracts, glaucoma, and aniridia-related keratopathy, which can be managed conservatively or through surgical intervention. The vast majority of patients harbor heterozygous mutations involving the PAX6 gene,...

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PMID: 36453299
DOI: 10.4103/ijo.ijo_316_22

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