Cataracts are caused when the lens in the eye that focuses light loses transparency. They often occur in older people, but can also occur in children and babies. Sometimes in children they occur with a genetic disorder. Cataracts can severely impair vision and cause complete blindness. The only available treatment is invasive surgery, with poor outcomes in children.
This research aims to understand how a defect in a particular gene causes cataracts in children. It also aims to discover the defective gene in an Australian family with childhood cataract and a newly described genetic disorder. This work will lead to better management and diagnosis of cataracts in children.