Abnormal Appearance of the Iris: Ocular Coloboma

An eye defect is a hereditary disorder characterized by an abnormal appearance of the iris. If the PAX6 gene (which is involved in the development of the ocular precursor's lens) is mutated, it may cause eye defects by not allowing effective closure of the embryonic space of the optic disc . The PAX6 gene is located on the P arm of chromosome 11 (11p13) and is a member of a protein complex called the pair box gene family (OMIM 2013).

Colo-bombs are ocular birth defects caused by abnormal eye development during embryogenesis. It is defined as a birth defect in any ocular tissue, usually in an abnormally closed position with the optic nerve, usually characterized by lack of tissue or gaps. Failure to fuse may result in the development of coloboma in one or more areas of the lower eye affecting any part of the sphere passing through the iris from the iris to the optic nerve, including the ciliary body, the retina and the choroid is there. Colo- bomas are also often associated with small eyes (small eyes) or (eye) absence as part of an abnormal spectrum of developing eyes, and can affect one or both eyes (Kelberman et al. , 2014).

Morrison et al. (2000) I studied 75 children with iris coloboma. In 13 patients (17.3%) patients there was significant dyschromatosis (142, 500). In unilateral colobomas patients, heterochromia is characterized by a darker iris that is affected by Colo-Bomb. In the case of bilateral iris coroboma that clinically had small eyes and corneal diameters shrunk, the color change of the iris is contradictory. The fundus depression does not always exist. The authors believe that the association of iridium coloboma - iris heterochromia may be due to abnormal closure of embryos, resulting in irregular or excessive migration of the neural crest cells to the iris matrix There. In addition, high frequency iridodichromasia - iris pigmentation and small eye diseases suggest that increased density of pigment cells in the iris matrix may contribute.