Status: Open to recruitment.
Background
Inherited optic neuropathies (IONs) are a group of heritable disorders characterised by optic nerve dysfunction. The most common primary IONs are autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON). IONs may present in association with other neurologic and systemic disease. This encompasses a wide spectrum of disorders, most frequently Wolfram Syndrome.
At present, established treatment options for vision loss from IONs remain limited. In order to facilitate treatment options for those with IONs, a more thorough understanding of how inherited optic neuropathies progress over time is needed. Using this information, we hope to improve our knowledge of the so-called natural history of inherited optic neuropathies. This information will be used to form the basis of clinical trials, helping progress research towards a curative therapy for inherited optic neuropathies.
Objectives
The aims of this study are to:
- Evaluate the rate of change in neuro-ophthalmic outcomes in patients aged ≥16 years with inherited optic neuropathies and disease duration within 10 years of onset of visual loss.
- Identify optimal assessments of clinical progression of optic atrophy
- Identify instruments for measuring neuro-ophthalmic outcomes
- Assess Quality of Life (QoL) in patients with IONs
- Conduct exploratory analyses of factors associated with disease progression
Research Aims:
The aim of this study is to understand how inherited optic neuropathies progress over time. We plan to achieve this by assessing a number of visual parameters and analysing how these may change over a three-year period.
Who can take part?
- Individuals aged over 16 years old
- Individuals who have a confirmed genetic diagnosis of an inherited optic neuropathy, with vision loss duration of 10 years or less.
What is involved?
Participants will be required to take part in the study over a three-year period.
We will ask participants to:
- Attend up to a maximum of 6 visits at Addenbrookes Hospital, Cambridge, over a three year period
- Complete all study assessments, including medical history, physical examinations, quality of life questionnaires and visual assessments.
- Decide if you would like to take part in any of the studies optional assessments, including blood samples.