Congenital ocular malformations

Abstract

• The embryogenesis of the eye and ocular adnexa is complex and depends on the organized expression and interaction of a number of developmental genes. Mutations in such genes or the influence of certain environmental toxins and teratogens cause ocular malformations. A number of ocular developmental genes have been identified and clinical molecular testing is now available for some. • Ocular malformations can be isolated or part of complex multisystem syndromes. Certain ocular malformations are harbingers of serious hidden abnormalities in other organs such as the heart, brain, or vascular system. • Ocular malformations cause vision loss directly by interfering with media clarity or integrity of ocular structures, or by causing diseases such as amblyopia, glaucoma, or retinal detachment that in turn result in loss of vision. • The management of patients with ocular malformations includes making an accurate diagnosis, identifying any potentially associated syndromes or malformations in other organ systems, optimizing visual function, and anticipating the occurrence of other problems such as glaucoma and amblyopia. © 2009 Springer Berlin Heidelberg.