Thanks to genetic testing, parents often find out whether their child has an inherited health condition before birth. While this has its advantages, being told that your child will be born with any sort of ailment or deformity can also be scary. If you've been informed that your baby will be born with Choroideremia, here are the answers to some of the questions you're likely to have.
What causes Choroideremia?
Choroideremia is an inherited genetic condition, which means that you or the child's other parent has passed it on to them. Since the disease is inherited on the X chromosome, of which females have two copies and males only have one, it typically only causes symptoms in males. Many females are carriers of the disease and do not find this out until they pass it on to a male child. Females can only inherit the disease if their father has it and the mother is a carrier--so Choroideremia is much more rare in females.
Will your child be able to see?
In most cases, babies with Choroideremia are born with completely normal vision. In fact, your child will have normal or nearly normal vision throughout childhood. However, during the teen years, your child will begin to develop blind or blurry spots in their visual field. Over time, the spots become larger and more prevalent, until your child is left with tunnel vision: the ability to see straight ahead, but not to the side.
Why does the vision decline in this manner?
Choroideremia causes damage to the retina, which is the part of the eye responsible for converting light into signals sent to the brain through the optic nerve. As the damage gets worse over time, the visual field becomes smaller and smaller.
What can you do about your child's condition?
Sadly, there is no cure for Choroideremia. Researchers are currently working on developing drugs that would slow the progression of the disease, so there is a good chance that by the time your child reaches their teen years, there will be more advanced management options available. Eating an antioxidant rich diet may also help slow your child's vision loss. Glasses or contact lenses will help keep the vision as clear as possible at any point in time.
Finding out that your child will have Choroideremia can be disheartening, but future treatment and management options show promise. If you have further concerns, talk to your pediatrician or eye doctor.