Utah Center for MacTel Genetics

Principal Investigator: Paul Bernstein
Keywords: Macular Telangiectasia Type 2 , Retinal eye disease , Genetics Department: Ophthalmology-Services
IRB Number: 00067179 Co Investigator:  
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases
Recruitment Status: Recruiting

Contact Information

Kimberley Wegner

Brief Summary

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 analysis, Identification 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, we will look for family relationships between probands that were not previously known. 

Inclusion Criteria

All first degree relatives of probands in families P48, M65, and W62 who are at least 7 years of age and have not undergone an eye exam in the past 3 years will be re-evaluated.  Any relevant second degree relatives who have not yet been examined by Dr. Bernstein will be recruited for the research.  Additionally, new patients presenting in clinic with a diagnosis of macular telangiectasia type 2 will be recruited for the research.

Individuals enrolled in the NTMT-03 protocol at the University of Utah (adults 22-79 inclusive).


Exclusion Criteria

Individuals with other conditions that might confound the evaluation of MacTel type 2