A NATURAL HISTORY OBSERVATION AND REGISTRY STUDY OF MACULAR TELANGIECTASIA TYPE 2 THE MACTEL STUDY

Research summary

Macular Telangiectasia (MacTel) type 2 is a disease of the retina, the light-sensing tissue at the back of the eye. MacTel type 2 leads to a gradual deterioration of central vision,which usually becomes noticeable in people around 40 to 60 years of age.The gradual loss of central vision experienced because of MacTel type 2 has a significant impact on quality of life, due to central vision being required for tasks that require sharp vision,e.g. reading and driving. MacTel type 2 is a bilateral disease, which means that both eyes can be affected, but not necessarily equally. MacTel type 2 may be an inherited disease. The project has already studied many families with several affected family members to determine the pattern of inheritance, and to look for responsible genes. About 10-20% of patients have other affected persons in their family, although these may be asymptomatic. The gene responsible has yet to be identified, and multiple genes may actually be involved. In the Oxford Eye Hospital a secure database of these patients will be created to characterize and document the structural and functional changes of MacTel type 2 patients from early onset to development of visual impairment. Blood samples will be collected. Patient data will be shared with the Lowy Medical Research Institute in a pseudoanonymized format via dedicated secure platforms. Data will be analyzed in aggregate form for publication and will be used as a registry to identify patients for future clinical trials. Blood samples will be used for genetic studies and investigation of systemic blood markers potentially associated with the disease.

Principal Investigator

Dr Samantha De Silva

Contact us

Email: ERGO@ouh.nhs.uk

IRAS number

224565