This report of a new mutation in the COL4A1 gene is the first report of a non-syndromic autosomal dominant congenital cataract that highlights an important role for collagen type IV in the physiological and optical properties of the lens.
This account of a novel mutation in the COL4A1 gene is the first report of an isolated autosomal dominant congenital cataract that underscores the significance of collagen type IV in the normal and optical characteristics of the lens.