Identifying risk factors for developing LHON

Research type

Clinical research

Start date


Participating coworkers


Leber’s hereditary optic neuropathy [LHON] is a rare mitochondrial disease which causes acute or subacute bilateral central loss of vision within a period of a few months. It usually occurs between the age of 15 and 30 years old and leaves patients visually impaired or even blind.

Description research

Therefore, the disease has an incredible influence on the life of patients. A lot of research is conducted in this field trying to find a cure for this devastating disease.


Three mitochondrial mutations, m. 11778(ND4), m.3460(ND1) and m.14484(ND6), contribute to 95% of the patients developing (sub) acute vision loss. However, most of the carriers with a mitochondrial DNA LHON mutation do not develop the illness; approximately 50% of male carriers and 10% of the female carries actually develop vision loss.

To identify unknown factors that cause disease

Additional unknown factors play a role in determining whether carriers develop disease or not. These could be (epi)genetic or environmental factors. We aim at elucidating the risk factors, which wlll aid in better understanding on LHON's pathophysiology. This will allow us to develop preventive interferences or even a cure for LHON.

Research plan

The research consists of several steps. First of all, we will start by collecting information about the Dutch pedigrees from Sophia’s Children’s and Erasmus MC’s hospital records and the database of the Dutch LOA/LHON patient organization. The missing links in the pedigrees are filled in by contacting family members. We will construct a complete picture of the Dutch LHON pedigrees. Secondly, family members will be approached to fill in a questionnaire. This questionnaire concerns aspects of lifestyle, environmental factors and quality of life. Finally, collected human tissues are analyzed to investige on genetic risk factors.

This research is conducted by Chantal Visser, Nina Becx and supervised by René de Coo.