Leber Congenital Amaurosis (CEP290) Natural History Study
Natural History Study of CEP290-Related Retinal Degeneration
The purpose of this study is to help ophthalmologists and scientists learn about the natural history of CEP290 related retinal degeneration. In medicine, a natural history study is a study that follows a group of people over time who have a specific medical condition or disease.
Main eligibility criteria:
- Must be at least 3 years old.
- Must have CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation.
- Must have visual acuity no better than 20/60 in each eye, but no worse than light perception.
- Good general health.
This study will occur at the Casey Eye Institute in Portland, OR, and at other sites around the world. Participation in this study will last about 1 year. There are 6 required visits in the study. Each study visit will involve functional vision tests and dilated eye exams.
If you are interested in learning more about this study or have a patient that you believe would be a good candidate, please call the study coordinator at 503-494-0020 or email .
Principal Investigator:
Mark Pennesi, MD, PhD.
Casey Eye Institute 3375 SW Terwilliger Blvd.
Portland, OR 97239
eIRB#: 17897
IRB Approved: 4/12/2018