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Coloboma, Ocular

Coloboma, Ocular Causes

The cause of the disorder is said to be an abnormality in Chromosome 22. This abnormality alters the proper functioning of the gene, resulting to developmental deformities.

Coloboma, Ocular Definition

Coloboma, Ocular is an uncommon chromosomal disorder that involves Chromosome 22 abnormalities. The eye has a hole in one of its structures, such as in the lens, iris, eyelid, optic disc, retina, or choroids. The disorder is inborn, and may be due to a gap known as choroids fissure in between the eye's two structures. This gap exists early during development inside the uterus, failing to completely close before an infant is born. It can affect both or only one of the eyes.

Coloboma, Ocular Diagnosis

If ocular coloboma is suspected, possibly noticed through the keyhole-like shape of the pupil, then opthalmologist do a complete eye examination.

Coloboma, Ocular Symptoms and Signs

Signs of the disorder can be severe or mild depending on the gap's location and size. If only a little portion of the iris is missing, vision can be normal; however, if a big part of the optic nerve or retina is not present, symptoms can be poor vision and a huge part of visual field would be missing. There are times when the eye might be decreased in size, called microphthalmia. Children with ocular coloboma also have deformities in other parts of their body.

Coloboma, Ocular Treatment

Presently, no treatment has yet been developed for ocular coloboma. An individual with the condition can get specialist care at hospitals during its early years in order to monitor effects of coloboma in the health of their eye. Frequent check-up is required. Glasses may be needed, but they do not correct the problem.

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