Table 2. Translational research initiatives for inherited optic neuropathies.

The National Institute for Health Research (NIHR) is spearheading an ambitious translational research programme for rare genetic diseases in the United Kingdom. Inherited optic neuropathies have been selected as one of the priority disease themes. As part of this specific NIHR study, we will undertake deep phenotyping of patients with LHON and DOA to define the natural history of the visual loss and to identify the most sensitive parameters for monitoring disease progression. Importantly, this study will provide useful information on the visual outcome measures that are most likely to reveal a clinically meaningful treatment effect in future clinical trials for pipeline neuroprotective agents. Please get in touch with us if you have eligible patients who could be enrolled into this national initiative for translational research into inherited optic neuropathies.