Principal Investigator: Paul Bernstein
Keywords: MacTel Department: Ophthalmology-Services
IRB Number: 00045548 Co Investigator: Albert Vitale
Specialty: Ophthalmology
Sub Specialties:
Recruitment Status: Recruiting

Contact Information

Barbara Hart

Simple Summary

Study Purposes and Objectives:The objectives should be stated in such a way that the reader can determine the appropriateness of the study design. If appropriate, state the specific hypotheses being tested and/or study aims. Use lay language. The purpose of this study is to identify persons with MacTel Type 2, and their affected family members to create a Registry of persons with MacTel Type 2. This Registry will be used to study eyes with MacTel Type 2 now and may be used in the future to identify persons to be in a study that may help find a way to prevent or treat this eye condition. We also wish to keep in contact with persons who have been told by their MacTel doctor that they have MacTel Type 2.

Inclusion Criteria

Registry Probands

  1. Must have a confirmed clinical diagnosis of MacTel type 2.
  2. Must be 18 year os age or oder.
  3. Should not have diabetic retinopathy with 10 or more microaneurysms.
  4. Have no confounding ocular conditions that may now or in the future complicate the evaluation of MacTel Type 2.
  5. Participants must be offered sufficient opportunity to review and to understand the informed consent form, agree to the form's contents and sign the informed consent.

Family Members

  1. Family members of any proband who are of the age approved by the IRB at the clinic where the family member will be seen may consent for screening.  Half-siblings are allowed to participate.
  2. If confirmed to be affected with MacTel Type 2, the Family Member may consent to be enrolled in the registry.

Exclusion Criteria


Participant Reimbursement

Participants may be reimbursed for travel expenses upon presentation of receipts for costs incurred