The primary purpose of this sub-study is to more fully characterize and further expand the most informative Utah macular telangiectasia Type 2 pedigrees (P48, M65 and W62) in order to contribute additional data to the MacTel Project research into identifying the causes of this condition, and ultimately therapeutic strategies.
Secondary objectives that will also contribute data to the MacTel Project include:
- Follow-up of previously identified, promising Utah MacTel simplex families to expand the pedigrees as appropriate for genetic analysisIdentification and characterization of new MacTel patients presenting in Dr. Bernstein’s clinical practice, with documentation of family history by a genetic counselor
In the second phase of this study (to be conducted at a future date), we will link MacTel individuals and families to the Utah Population Database.
Principal Investigator: Paul Bernstein