Over the past 15 years, nearly 500 genes that contribute to inherited eye diseases have been identified. Disease-causing mutations are associated with many ocular diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. This remarkable new genetic information highlights the significant inroads that are being made in understanding the medical basis of human ophthalmic diseases. As a result, gene-based therapies are actively being pursued to ameliorate ophthalmic genetic diseases that were once considered untreatable.