Coloboma, Ocular

Below you will find more information about Coloboma, Ocular from Medigest. If you believe that you are suffering from any of the symptoms of Coloboma, Ocular it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Coloboma, Ocular and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Coloboma, Ocular comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


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.


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


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.

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.


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.

Discuss Coloboma, Ocular in our forums

Discuss Coloboma, Ocular with other members of Medigest in our forums.