MACTEL- The Natural History Observation and Registry Study (NHOR)
Macular Telangiectasia (MACTEL) type 2 is a disease that affects the part of the eye called the Macula, causing gradual loss of central vision. This is because the Macula is the part of the retina (the light-sensitive layer of tissue that lines the back of the eye) responsible for clear central vision. Patients with Mactel usually present with noticeable symptom around the age of 40-60 years. Mactel type 2 does not result in total loss of vision but has a significant impact on quality of life making tasks like reading and driving extremely difficult. Mactel type 2 is a bilateral disease which means both eyes can be affected but not necessarily equally. Mactel type 2 appears to be an inherited disease as recent studies shows 10-20% of patients have other affected persons in their family although they may be asymptomatic.
This project is focused on studying families with several affected family members to determine the pattern of inheritance and look for responsible genes. The gene(s) responsible has yet to be identified and there maybe multiple genes involved. The Oxford Eye Hospital has created a secure database of these patients to characterise the functional and structural changes of Mactel type 2 from early onset to development of visual impairment. Blood samples will be collected and used for genetic studies and investigation of systemic blood markers associated with the disease. Patient data is shared with the Lowy Medical Research Institute in a pseudo-anonymised format via secure platforms. Data collected will then be analysed in aggregate form for publication and will be used as a registry to identify patients for future clinical trials.