Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, or peripheral cortical.
Sun et al. (2005) described a 6-generation Chinese family segregating progressive polymorphic cortical cataract. The phenotype was characterized by progressive opacities in the cortex of the lens with a ground-glass appearance at an early age. The cataract was ... Sun et al. (2005) described a 6-generation Chinese family segregating progressive polymorphic cortical cataract. The phenotype was characterized by progressive opacities in the cortex of the lens with a ground-glass appearance at an early age. The cataract was progressive, and cataractous changes were prominent in affected older individuals, whose vision began to deteriorate between the ages of 8 and 15 years. The position, size, and density of the opacities were variable among the 14 affected members of the family. The opacities could be located in the anterior, posterior, or peripheral cortex, but no opacity was observed in the fetal nuclear region.
In affected members of a 6-generation Chinese family with progressive polymorphic cortical cataract, Sun et al. (2005) identified a heterozygous missense mutation in the CRYGS gene (G18V; 123730.0001).