Coloboma (also often called cat eye syndrome or cat-eye syndrome) is a disorder that affects one of the structures of the eye, such as the iris, the choroid, the eyelid, the retina and the optic nerve. The disease affects 1 to 2 people of 10000. It is caused by a failure to close an eye slit, in the intrauterine phase, during the first to second month of gestation.

The consequences of coloboma on view may be vague or severe, this depends on where the birth defect is localized and its extension. For example if limited to the iris does not present problems to the vision, if, however, also extends to the optic nerve and to the retina gives a greatly poor vision.

It is believed that about 2/3 of the cases have genetic nature. Currently, however, only for a few genes was demonstrated involvement in the onset of these conditions in humans, such as PAX2 (in some cases of c. Optical associated with kidney malformations). Other genes are "suspects", based on the analysis of experimental models, to play a role in these eye malformations, such as the Rx genes, Vax1 and Vax2.

It can cause decreased visual acuity or visual field deficits, especially if it is concerned the retina. C. It can also be an acquired lesion, a result of surgical interventions or trauma that affected the iris.

ophthalmoscopic examination.

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