Utah Center for MacTel Genetics

Overview

Status: Enrolling by invitation
Keywords: Macular Telangiectasia Type 2 , Retinal eye disease , Genetics
IRB Number: 00067179
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases

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 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
Department: Ophthalmology-Services
Co Investigator:

Contact Information

Name:Kimberley Wegner
Phone: 801-581-6265
Email: kimberley.wegner@hsc.utah.edu

Inclusion Criteria

All first degree relatives of probands in families P48, M65, and W62 who are at least 30 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.

 

Exclusion Criteria

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