Congenital Fibrosis and the Need for Genetic Testing
When Aman walked into my clinic, holding his mother’s hand, I had a feeling that this was going to be a long visit. He was 3 years old and had not yet started school. He lifted his chin up to view things of interest, and his eye alignment did not look normal.
After the preliminary workup, they were ushered into my clinic, and I examined Aman in detail. He had a rare condition called Congenital Fibrosis of the extraocular muscles. It appeared to be isolated as both parents had normal eye alignment. We talked at length about the next steps. I encouraged them to obtain an MRI, which would confirm the diagnosis. They came back a week later with the MRI, which helped confirm the condition.
We discussed surgical correction and agreed it is best undertaken before Aman starts school. I also advised them to obtain genetic testing to determine whether a specific gene mutation had caused this condition.
Sometimes the treating ophthalmologist may ask for genetic testing and counseling with a geneticist. There are several reasons for this, and sometimes parents may view this as an academic exercise. It may be important to establish whether the eye condition is part of a systemic syndrome with findings that may not yet have come to light. This may have future implications for the child’s close monitoring. Some genetic defects may have associated risks for anesthesia, and this has to be diagnosed, especially if eye surgery is being planned.
Some genetic diseases may be inherited (but hidden in the parents, called recessive) and hence may have implications if the parents are planning another child. It may also be important for the child when they grow up and want to have children of their own.
The cost is often prohibitive, leading families to hesitate to get the genetic test. However, it is an important safety consideration and an investment for the child’s health and future well-being. Aman’s family is awaiting test results after much discussion.
So, if your doctor suggests genetic testing, it is important to have a candid discussion and understand the reasons for the same.
