Molecular Genetics of the Peripapillary Pigmentary Retinal Degenerations

(Currently Enrolling)

Why we are doing this study:
We would like to better define the nature of patients who present with a specific pattern of pigmentary retinal degeneration, to determine if these patients have a form of retinitis pigmentosa, one of the more common hereditary retinal diseases.  We seek to develop better diagnostic techniques and perform molecular genetic testing on patients who present with this type of retinal degeneration for patient education and to identify patients who may be eligible for clinical trials leading to medical treatment of their disease.

Who can be in the study:
Adults who present with this type of retinal degeneration who are willing and able to have pictures taken of their eyes and who are willing to have blood testing performed can be in this study.
Specific screening questions will be asked before scheduling a study appointment.

What the study involves:
The study involves a visit for a retinal examination. The eyes will be dilated with drops and then pictures of the eyes will be taken with different imaging devices that are currently used in clinical care. Blood will be drawn and sent for analysis for genetic mutations known to be associated with retinitis pigmentosa. There is usually only one visit for the study and the visit will usually take about two hours. 

Will you directly benefit from the study?
You may benefit from the study if your condition is diagnosed as a result of the tests that we perform. In addition, if we identify that you have a known mutation associated with your disease, you may be eligible for future clinical trials that study potential treatments. You will receive $40 for your participation.

Other things you should know about the study:

  • You will not be charged for any of the tests if you have some form of health insurance that is accepted by us. You will however be responsible for any co-pays or unmet deductibles.

PI: Sherry Bass
For more information, contact the Clinical Vision Research Center.