Cure ADOA Foundation
The Cure ADOA Foundation is for people with a severe hereditary disease of the optic nerve called: autosomal dominant optic atrophy (ADOA). This disease is caused by a mutation in the OPA1 gene. With ADOA, the optic nerve dies overtime, leading to visual impairment or even blindness. There is also an ADOA+ variation with additional symptoms such as hearing loss, problems with coordination of movements and/or muscle problems.
Focus on treatment and cure
Since November 2018, Cure ADOA Foundation has been focusing on fellow patients and their families. We have the following goals: scientific research, disease awareness, interaction between all parties involved and a trustworthy place for the patients.
Our ultimate goal is treatment and cure!
For now we made a short version of our website:
- What is ADOA?
- The Cure ADOA Foundation
- Frequently asked questions
- Support Cure ADOA Foundation
Do you have ADOA or someone close to you?
We want everyone who is suffering of ADOA to be able to find us. Not only in the Netherlands but also around the world. We already have contact with patient organizations in the United States and in France and are working on Germay, the United Kingdom and Denmark.
You can contact us as a patient by sending us an e-mail to firstname.lastname@example.org. Also as (ophthalmologist), clinical geneticist, family member or next of kin you can subscribe to our newsletter. This way, we hope that we can support all people with ADOA!
Database with patients
It is important that all patients with ADOA and ADOA+ are recorded in a central database so that all variations and mutations of the OPA1 gene are known.
This project was started in September 2019, see also the following article: https://pubmed.ncbi.nlm.nih.gov/31500643-opa1-516-unique-variants-and-831-patients-registered-in-an-updated-centralized-variome-database.
The database of the LOVD can be found here: https://databases.lovd.nl/shared/genes/OPA1.
If you are doing genetic research, would you make the clinical geneticist aware of this database?