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. 

Project data on the genetics of MacTel is suggesting an association with the SPLTC1 gene locus, which is also implicated in the neurological condition HSN1.  For this reason we will attempt, through UPDB, to independently ascertain any individuals in our MacTel families who have been diagnosed with HSN1 or related neurological conditions to evaluate them for signs of MacTel and obtain samples for genetic analysis.

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.  Relatives of newly diagnosed patients presenting in clinic may also be asked to participate in the research.

Individuals in MacTel families with a diagnosis of Hereditary Sensory Neuropathy Type 1 (HSN1; ICD-9 356.2 and ICD-10 G60.0, G60.8 or G60.9) or suspected HSN1.

Patients outside MacTel families who are referred with a clinical diagnosis of Hereditary Sensory Neuropathy Type 1 (HSN1; ICD-9 356.2 and ICD-10 G60.0, G60.8 or G60.9) or suspected HSN1.

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