A disproportionately high number of human inherited disorders involve the eye. Genetic factors are the major cause of childhood blindness and strongly contribute to the main adult-blinding diseases such as age-related macular degeneration (AMD), glaucoma and retinal degeneration. Both the ophthalmologist and optometrist are in a unique position to detect the presence of these ocular manifestations, which may be the first clue that the patient has a genetic disorder. A specific clinical and genetic diagnosis provides the patient and family with a framework for discussions on prognosis, treatment and the heritability of a condition (MacDonald et al. 2004).