Developmental anomalies of the eye: the genetic link

As in other areas of the body, developmental anomalies of the eye arise as a result of the disturbance of events during embryology and in a proportion of cases these anomalies are genetically inherited. Developmental anomalies that occur early in embryonic life may be so severe that the embryo may not survive but others result in the birth of healthy babies but with developmental eye defects of varying severity. The most dramatic developmental defects of the eye include anophthalmos (complete absence of an eye), microphthalmos (a general failure of the eye to develop resulting in a small, undeveloped eye), coloboma (caused by failure of the optic vesicle to invaginate), and aniridia (complete or partial loss of the iris). The present article does not provide an exhaustive review of the topic but considers the major types of developmental anomaly to affect the eye and will discuss how recent progress in genetics has increased our understanding of these disorders. The major genes linked to the developmental anomalies are discussed as well as how defects in these genes might lead to specific problems.