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

Contact Information

Barbara Hart

Simple Summary

Characterize the genetic and clinical associations of MacTel Type 2

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.

Participants in this study are also recruited into the MacTel NHOR registry (IRB # 45548) and may be recruited into the NTMT-03 MacTel treatment study (IRB # 105598).  The order of recruitment is 1-MacTel Genetics (67179), 2-NHOR (45548) and 3 - NTMT-03 (105598).


Exclusion Criteria

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

Participant Reimbursement

Travel reimbursement may be available