Mactel Natural History Observation and Registry Study

Investigator: Jacque Duncan, MD
Sponsor: Lowy Institute for International Policy

Location(s): United States


The Natural History Observation Registry (NHOR) is a world-wide registry of individuals with Macular Telangiectasia type 2, and their family members. Enrollment in the registry involves an initial clinic visit with a comprehensive eye exam, and blood is drawn for MacTel research.

One of the objectives of The Lowy Medical Research Institute is to determine if MacTel has a genetic component. Blood drawn at registry sites is banked for genetics studies by scientists affiliated with LMRI. Genetics studies have been done on unrelated individuals with MacTel, and on families with MacTel. Registry participants play a critical role in the search for a gene.