Coloboma, also known as keyhole defect of the iris.
Coloboma is a congenital genetic disorder. It can appear as a black notch of varying depth at the edge of the pupil, giving the pupil an irregular shape. It can also appear as a split in the iris from the pupil to the edge of the iris. Coloboma may be associated with hereditary conditions, trauma to the eye, or eye surgery. The defect may extend to the retina, choroid, or optic nerve. A coloboma can occur in one or both eyes. The effects a coloboma has on the vision can be mild or more severe depending on the size and location of the This is more likely to cause problems with mobility.
If the lower visual field is absent. Other conditions can be associated with a coloboma. Sometimes the eye may be reduced in size, a condition called microphthalmia, or there may be glaucoma, nystagmus or strabismus (squint).Some children with coloboma of the eye also have malformations in other parts of the body. There is a rare condition called CHARGE syndrome, in which coloboma is associated with cleft lip and/or palate, ear abnormalities and hearing impairment, choanal atresia, delays in growth and development, central nervous system anomalies and congenital heart defects. Colobomas are caused by a mutation in the pax2 gene.
Coloboma can occur in isolation. It also can occur with chromosomal abnormalities that involve other body structures. Coloboma can occur in conjunction with heart defects, choanal atresia, nervous system abnormalities, genital or urinary tract anomalies or ear malformations (CHARGE syndrome). MAF gene result in iris Coloboma and in the SHH gene cause Coloboma and Microphthalmia. Further genes may have been identified in the case where Colobomas are part of a recognised syndrome. Coloboma occurs in 1 of every 10,000 people. Interestingly, 80 to 90% of children diagnosed with CHARGE have Coloboma.
Todate, not there will be treatment for Coloboma. However, contact lenses can be borne in order to make an eye to appear normal. Solar glasses will be and in proportion to Coloboma it makes with eye special sensitive to the light, flat causing pain proper to the impossibility of the iris to conclude contract. It is visually damaged for those, it is more than a study to be made. Sometimes cosmetic contact lenses can be examined at the later stage. These can soak make a view of pupil round rather than that formed keyhole. Prescription sunglasses due to the light-sensitivity may also be suggested.
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