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 rare, slowly progressive condition that affects the central part of the retina, which is responsible for detailed vision such as reading and recognising faces. Recent research has shown that MacTel shares some genetic and metabolic similarities with a rare nerve disease called hereditary sensory and autonomic neuropathy type 1 (HSAN1). Both conditions are associated with higher levels of certain fatty substances in the blood, known as deoxysphingolipids, which are thought to be harmful to nerve cells.
Although only a very small number of people with MacTel have HSAN1, many may still have subtle changes in their peripheral nerves due to these metabolic effects. Understanding whether these changes occur, and how they progress, could help researchers learn more about how MacTel develops and affects the body beyond the eye.
This study will use corneal confocal microscopy (CCM), a safe, non-invasive imaging technique that allows researchers to view tiny nerve fibres in the front surface of the eye (the cornea). Changes in these nerves are known to be an early indicator of peripheral nerve damage in other conditions such as diabetes.
By comparing nerve images taken from MacTel participants who were previously studied more than two years ago, this research aims to find out whether there has been any measurable change over time in the density or structure of corneal nerves. These findings will help clarify whether nerve damage in the eye progresses alongside retinal changes in MacTel and may provide valuable insights into how nerve and retinal health are linked in this disease.
REC name
London - Hampstead Research Ethics Committee
REC reference
25/PR/1492
Date of REC Opinion
13 Feb 2026
REC opinion
Further Information Favourable Opinion