Gene Mutations and IRD

All forms of inherited retinal dystrophy are caused by mutations in genes. These genes are involved in the development and function of light-sensitive cells (photoreceptors) and other cells in the retina.1 More than 260 genes have been associated with IRD, and a genetic diagnosis can be found in about 60% of all cases of IRD.

Common genetic terms

Here, are some of the most common words with quick definitions to make things easier.

Autosomal: a mutation that is not on the X or Y chromosome

X-linked: a mutation that is on the X chromosome

Recessive: means that you need two copies of the mutated gene for the disease to cause symptoms

Dominant: where only one copy of the mutation is needed for a person to be affected

Carrier: Someone who has a copy of a recessive mutation but is not affected by the disease associated with it. A carrier can pass the mutated gene on to their children