Summary of ocular genetic disorders and inherited systemic conditions with eye findings

Abstract

Of the close to 10,000 known inherited disorders that affect humankind, a disproportionately high number affect the eye. The total number of genes responsible for the normal structure, function, and differentiation of the eye is unknown, but the list of these genes is rapidly and constantly growing. The objective of this paper is to provide a current list of mapped and/or cloned human eye genes that are responsible for inherited diseases of the eye. The ophthalmologist should be aware of recent advances in molecular technology which have resulted in significant progress towards the identification of these genes. The implications of this new knowledge will be discussed herein.