Coloboma of iris

Overview

A coloboma (also part of the rare Cat eye syndrome) is a hole in one of the structures of the eye, such as the lens, eyelid, iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure between two structures in the eye, which is present early in development in the uterus, fails to close up completely before a child is born. A coloboma can occur in one or both eyes.

Causes

Colobomas can be associated with a mutation in the PAX2 gene.

Diagnosis

Home medical testing related to Coloboma of eye lens: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests

Treatment

There is no treatment for coloboma at present. A child with coloboma will receive specialist care at hospital during the early years to monitor the effect of the coloboma and their eye health. The frequency of these checks will depend on the child’s needs. Children who have coloboma can be more at risk of glaucoma (increased eye pressure) and retinal detachment. There are treatments for both of these conditions which the hospital would explore with you.