Usher syndrome type 1F affects hearing and vision. Most people are born with severe or profound hearing loss. Inner ear problems can also cause issues with balance, which can lead to a delay in sitting and walking in infants.
The vision loss experienced by individuals affected with Usher syndrome type 1F is progressive and usually begins in childhood. This condition is known as retinitis pigmentosa (RP).
Sometimes, individuals with variations in their PCDH15 genes have profound hearing loss without balance trouble or vision loss. This is known as non-syndromic hearing loss or DFNB23.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Usher syndrome type 1F/PCDH15-related disorders, but there's a total 301 conditions that can be tested.
Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for Usher syndrome type 1F/PCDH15-related disorders is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.