Casey Eye Institute

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 

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