Article
Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy.
Cornea - 1 Jun 2022
Choo Charlene H, Boto de Los Bueis Ana, Chung Doug D, Aldave Anthony J
Abstract excerpt
PURPOSE: The aim of this study was to report the results of screening peroxiredoxin 3 (PRDX3) and PDZ domain-containing protein 8 (PDZD8) in a previously unreported pedigree with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) to confirm that the PRDX3 mutation c.568G>C is the genetic basis of PPPCD. METHODS: Ophthalmologic examination of the proband and her affected father was performed with...
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