Progression of CNF abnormalities in patients with MacTel
Research type
Research Study
Full title
Progression of corneal nerve fiber abnormalities in patients with macular telangiectasia type 2 (MacTel)
IRAS ID
361122
Contact name
Catherine Egan
Contact email
Sponsor organisation
Lowy Medical Research Institute
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Macular telangiectasia type 2 (MacTel) is a slowly-progressive, neurodegenerative disease of the central retina. Recently, a common genetic background between MacTel and a rare form of peripheral neuropathy –hereditary sensory and autonomic neuropathy type 1 (HSAN1) – has been demonstrated. While only a very small fraction of MacTel patients have HSAN1, the broader MacTel population shares the same metabolic phenotype, elevated levels of neurotoxic lipids, deoxysphingolipids. Increased deoxysphingolipid levels have also been found in other diseases with peripheral neuropathy, including diabetic neuropathy. Corneal confocal microscopy is a non-invasive imaging technique that allows for examination of the density and structure of sub-basal corneal nerves in vivo. Alterations in corneal nerve fiber density and structure are very early signs of peripheral neuropathy and have been demonstrated in patients with diabetic and other peripheral neuropathies. In a previous study, we found a significant reduction in corneal nerve fibers, reflected by a decreased density, length and branch density of corneal nerve fibers in patients with MacTel. Whether these corneal nerve fiber abnormalities progress over time, and how this compares to retinal disease progression in MacTel, has not yet been evaluated.
REC name
London - Dulwich Research Ethics Committee
REC reference
25/LO/0663
Date of REC Opinion
18 Sep 2025
REC opinion
Unfavourable Opinion