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.
A recent discovery of a new mutation in the COL4A1 gene has shed light on the crucial role of collagen type IV in the functioning and transparency of the lens, as revealed by this case of autosomal dominant congenital cataract.