Article
Analysis of Keratoconus-Related Phenotypes in Two Pcsk1 Mouse Models.
Translational vision science & technology - 2 Feb 2026
Beatty Carol, Cai Jingwen, Yu Hongfang, Sun Jiong, Heo Yejin, Baratz Keith H, Bernhisel Ashlie A, Patel Sanjay V, Estes Amy J, Kuo Anthony N, Liu Yutao
Abstract excerpt
Purpose: Previously, a variant within the Pcsk1 gene was found to segregate with the keratoconus (KC) phenotype in whole genome sequencing of a four-generation family. We aimed to evaluate a potential relation between the Pcsk1 gene and corneal phenotype in mouse models. Methods: Two strains of Pcsk1 mice, one with a knockout (KO) and one with an N222D point mutation, were bred. Central corneal thickness (CCT)...
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