|Principal Investigator: Paul Bernstein|
|Keywords: Macular Telangiectasia Type 2 , Retinal eye disease , Genetics||Department: Ophthalmology-Services|
|IRB Number: 00067179|
|Sub Specialties: Retinal Diseases|
|Recruitment Status: Recruiting|
Characterize the genetic and clinical associations of MacTel Type 2
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).
Individuals with other conditions that might confound the evaluation of MacTel type 2
Travel reimbursement may be available