A review of ocular genetics and inherited eye diseases

Abstract

During the past twenty years, there has been an exponential increase in the knowledge and under-standing of ocular genetic diseases and syndromes. The number of human eye diseases that have a known genetic or hereditary component continues to increase. In addition, genetic diseases are the most common cause of blindness in infants and children in developed countries. Optometrists are likely to encounter patients with inherited eye disorders. They may be the first clinician the patient consults. Inherited eye diseases may be isolated (only affecting the eye) or part of a complicated syndrome. Both isolated eye diseases and genetic syndromes can have identifiable gene mutation known to cause the disease.Knowledge of the clinical and molecular features of ocular genetics and inherited eye diseases is important for appropriate diagnosis and patient management. This article reviews the current information on ocular genetics and inherited eye diseases.The ocular conditions described in the review have significant visual impairment and blindness consequences. Therefore, optometrists (as the mostly likely first line of consultation) should be able todiagnose the condition appropriately first before they could make any management, care or referralplan. Visual aids are, of course, one of the management options for such patients with visual impairment. (S Afr Optom 2012 71(4) 178-189)