Article
Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.
Ophthalmic genetics - 1 Jun 2000
Tzekov R T, Sohocki M M, Daiger S P, Birch D G
Abstract excerpt
Our aim was to describe the visual function characteristics of affected members from two unrelated families with different dominant mutations in the CRX gene. Standard full-field ERGs and high-intensity a-wave series were obtained. In addition, in most subjects, dark-adapted (DA) thresholds, color vision function (arrangement tests), and static perimetry were assessed. A point mutation in codon 41 of the CRX gene...
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