Article
A review of the clinical and genetic aspects of aniridia.
Seminars in ophthalmology - 1 Jan 2000
Lee Hyunjoo J, Colby Kathryn A
Abstract excerpt
Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystagmus, and patients tend to develop visually significant pre-senile cataracts and keratopathy. Additionally, they are at high risk for developing glaucoma. Classic aniridia can be genetically defined as the presence of a PAX6 gene deletion or loss-of-function mutation that results in...
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