Article
Morphometric analysis of the lens in human aniridia and mouse Small eye.
Experimental eye research - 1 Feb 2021
Voskresenskaya Anna, Pozdeyeva Nadezhda, Batkov Yevgeniy, Vasilyeva Tatyana, Marakhonov Andrey, West Richard A, Caplan Jeffrey L, Cvekl Ales, Wang Yan, Duncan Melinda K
Abstract excerpt
Congenital aniridia is caused by heterozygous mutations in the PAX6 gene. In this disease, congenital iris and foveal hypoplasia is associated with juvenile onset cataract, glaucoma, and corneal keratopathy. In rodents, Pax6 mutations result in a congenital reduction in ocular size that is not typically described in human aniridia. Here, the ocular morphometry of aniridia patients is compared with the lens...
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