What is OI

What is OI

Also known as OI or ‘brittle bone disease’ – is a rare genetic disease of bone and connective tissue. The diagnose is known all around the world and occurs regardless of gender or ethnic origin. It can be developed by spontaneous mutation shortly upon fertilisation or inherited from a parent.

Cause of OI

OI is caused by a genetic defect resulting in insufficient production or imperfectly formed collagen, which is the main component of connective tissue such as bone. OI can affect all parts of the body involving collagen including eyes and internal organs. In around 90 per cent of the cases OI is due to mutations in type I collagen. In the last 10 years various rare forms of OI caused by other genes than type I collagen have been discovered.

Source: Our partner OIFE (OI Federation Europe) with small adaptations.