Multiple dysembryogenic stigmas accompanied by congenital coloboma

Abstract

Coloboma is a congenital defect that affects the normal structure of the eye, most commonly the eyelid or the iris, causing an absence of part of the eye tissue. Coloboma may occur spontaneously or it may be inherited. The incidence of colonic congenital pathology of eye structures and of various strains is between 0.5 and 0.7 per 10,000 newborns, of which more than 60% are due to the coloboma of the iris.
The congenital coloboma is inherited and and mostly inherited by autosomal dominant characteristics. Autosomal-resuscitation is rarely found. Coloboma is commonly associated with dysembryogenic stigmas occurring as a result of chromosomal mutation. There are numerous syndromes that include VCFS (Velocardiofacial syndrome), DGS, CHARGE, congenital heart defects, facial dysmorphism, anomalies of brain, ear and internal organs occur with coloboma.
Thus, the coloboma of the iris is considered to be a polyethiologically unsuccessful congenital anomaly. Our clinical observation is considered as an example of this pathology.