The classification of disease status has been extremely important to the MacTel project. One aspect of the MacTel project is to analyse families with macular telangiectasia type 2. Following the identification of one individual in a family with MacTel (the “proband”), their relatives may be examined for MacTel. The Moorfields reading centre determines if family members are affected or unaffected. This can be difficult for an age related disease, where it is possible that an individual is not yet showing all of the symptoms of disease that would lead to a definitive diagnosis.

Through the MacTel study the Moorfields reading centre became a global pioneer in interpretation and grading of novel imaging modalities such as dual wavelength autofluorescence, blue light reflectance and en face OCT as well structure-function correlation techniques with the use of microperimetry. The study has recruited more than 1670 patients from more than 50 clinical sites across the world.

We are now applying novel image analysis and artificial intelligence methods on the vast imaging dataset accrued in the context of the MacTel study with a view to further elucidating the natural history of MacTel, better describe late phenotypes and potentially update the staging system for this disease. We are also seeking to develop AI algorithms for the automated detection of MacTel on OCT scans. The reading centre has contributed to 9 of 14 original articles about MacTel in 2017-2018.

Read more at the LMRI website