Rare diseases

Rare diseases content

Many conditions causing sight loss are classified as a rare disease, amongst others these include retinitis pigmentosa (RP), Stargardt disease, con rod dystrophy, Usher syndrome, Leber hereditary optic neuropathy (LHON), Leber congenital amaurosis (LCA), and choroideremia.

In Europe a condition is considered rare when it affects less than one in 2,000 people. Although individually these conditions are rare, collectively rare diseases affect between 6 and 8% of the European population. An estimated 300,000 people in Ireland will be affected by a rare disease in their lifetime.

It’s not rare to have a rare disease.

We work with all relevant stakeholders in the area of rare disease. There are many different types of rare diseases that impact people’s health and quality of life in many different ways. However, these very diverse range of conditions have common issues such as access to genetic services, to timely and appropriate healthcare, and to the most effective therapies. By working together with other rare disease groups, we can be more effective advocates for people living with rare sight loss conditions and all other types of rare diseases.

Please follow the links below for more information about rare diseases and our work.

What is a rare disease?
Rare diseases advocacy
European Reference Networks (ERNs)
National Rare Disease Plan
National Rare Diseases Office