Researchers are closer to a genetic cause of MacTel

The genetic cause of macular telangiectasia type 2—also known as MacTel—remains unclear, but results published in the journal Nature Genetics show that a team of international researchers have identified five small regions of the genome where the culprit genes are likely to reside.

According to Rando Allikmets, PhD, the William and Donna Acquavella Professor of Ophthalmic Sciences at the Columbia University Medical Center, the results should help researchers uncover how MacTel develops and how to design effective therapies.

MacTel is a rare neurovascular degenerative retinal disease that is often misdiagnosed as age-related macular degeneration. Both conditions involve overgrowth of blood vessels behind the retina.

However, these new results suggest that MacTel may begin in the retina’s Müller cells, which keep the neurons in the retina healthy. A few of the potential MacTel genes appear to alter the eye’s normal enzymatic activity, which may impair Müller cells.

The authors speculate that targeting the enzymes has the potential to keep Müller cells and retinal cells healthy.

Researchers note that more studies are needed to confirm the involvement of the suspected genes and the mechanism by which they cause MacTel. Dr. Allikmets says more genes are likely involved in MacTel, and he is currently working on studies with additional affected patients to identify them.

The study was supported by the Lowy Medical Research Institute (US), National Institute for Health Research (NIHR) Moorfields Biomedical Research Centre (UK), Victorian State Government Operational Infrastructure Support (AUS), and the Australian Government National Health and Medical Research Council (NHMRC). Databases used by the researchers were funded by the National Eye Institute, the Wellcome Trust, the British Heart Foundation, and Diabetes UK.

To read more about this study, visit Nature Genetics.