A coloboma is a missing piece of tissue in a person’s eye.
One or both eyes may be affected.
Colobomas affect roughly one in 10,000 people.
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The condition can impact vision depending on where the defect occurs.
Causes
A coloboma is essentially a hole in the structure of the eye.
There may also be more than one coloboma in an eye.
The cause of the abnormal formation is often linked to a mutation of thePAX2gene.
However, most cases involve the iris, causing a notable gap that gives thepupila keyhole or cat’s-eye-like appearance.
Having a coloboma doesn’t necessarily mean you will have vision problems.
A coloboma of the iris may cause vision changes by allowing more light into the eye than normal.
A coloboma is diagnosed by the appearance of gaps or holes in the structure of the eye.
With the iris, the identification is relatively easy, but other internal deformities may be harder to spot.
For people with coloboma of the iris, colored contact lenses can be used to mask the deformity.
There are also educational sites and online support groups for those severely affected by colobomas.
An ophthalmologist can diagnose a coloboma with an examination of the eye.
Corrective lenses, low-vision aids, and eye patches may be used to correct vision problems.
A coloboma of the iris can also be masked with colored contact lenses and occasionally repaired with surgery.
U.S. National Library of Medicine.Coloboma.
2022;14(6):e26316.
doi:10.1136/bcr-2015-210559
American Academy of Ophthalmology.Iris coloboma repair.
American Academy of Ophthalmology.Coloboma treatment.
ClinicalTrials.gov.Genetics of uveal coloboma.
Lighthouse Guild.Parent tele-support group enrollment.
