Gene Therapy Center at Casey Eye Institute

Father holding son at sunset

New treatments bring hope to inherited eye diseases

Promising new treatments are being studied and developed for people with genetic eye diseases of the retina. Called gene therapy, this treatment involves replacing non-working genes with healthy copies to slow or halt vision loss. 

“We are entering an era of new therapy for those who otherwise would become irreversibly blind. For the first time, we are offering hope for these patients and their families and improving quality of life.”

- Mark Pennesi, M.D., Ph.D., Associate Professor, Chief, Ophthalmic Genetics Service

What is gene therapy?

Some eye diseases are caused by a defect in a single gene passed down through family members. Most affect the retina (the light-sensing tissue lining the back of the eye) or the choroid (the layer of blood vessels between the retina and white part of the eye). The abnormal gene keeps certain eye cells from working properly, which can lead to vision problems. Sometimes these problems get worse over time.  

In gene therapy, these faulty genes are replaced with healthy copies to correct the underlying cause of the disease –potentially for a lifetime. The working genes are delivered to eye cells in the retina during a same-day procedure.  

Thanks to advancements in medical science and technology –particularly the mapping of the human genome –researchers have been able to pinpoint specific genes associated with a number of inherited eye disorders of the retina. These include:

  • Leber congenital amaurosis (LCA) 
  • Usher syndrome 
  • Stargardt disease 
  • Retinitis Pigmentosa 
  • X-Linked Retinoschsis  

Our expertise 

Casey's standing as a premier center for gene therapy research is built on three decades of unparalleled expertise studying and caring for people with inherited eye disease. As a major referral center, our ophthalmic genetics program has the personnel, structure and technology to take on the many challenges of gene therapy:  

  • Physician-scientists and eye surgeons with advanced training and experience in genetic eye disorders and diseases of the retina. While few eye centers have more than one ophthalmic geneticist on staff, Casey has three. 
  • The focused, coordinated care of a team of genetic counselors, study coordinators and diagnostic technicians 
  • Cutting edge diagnostic techniques that enable researchers to objectively measure whether a gene medication is working 

Our doctors

Ophthalmic genetics clinic

If you have questions about a diagnosis or wish to see one of our doctors in the Ophthalmic genetics clinic, please contact us to make an appointment at 503-494-8386. Learn more.

Getting treatment

OHSU Casey Eye Institute is able to offer gene therapy treatment to patients with inherited retinal disease due to mutations in both copies of the RPE65 gene. This is the first FDA approved gene therapy treatment, called Luxturna, but we hope to offer more options soon. Learn more.

Dr. Pennesi and his research team study ocular genetics and inherited eye diseases.

Clinical trials

Individuals diagnosed with a genetic eye disease may be a candidate for a clinical trial using gene therapy. OHSU Casey Eye Institute is internationally renowned for its outstanding research and patient care services for inherited eye disorders, including leading-edge investigations like gene therapy clinical trials. 

Casey is conducting more gene therapy clinical trials than any other institution in the world and is the first to test this groundbreaking approach for several inherited disorders of the retina. We enroll study patients from across the United States and throughout the world. Findings from some earlier studies of gene therapy are encouraging, and show that the treatment was safe and helpful for vision. 

Gene therapy is a new treatment intended to help people with specific genetic diseases of the eye. The appropriate treatment of individual cases varies greatly depending on the patient's medical and surgical history. The information expressed on this website is not medical advice. It is meant only to inform health care professionals and patients about the current status of gene therapy treatment, research and related services and activities at the Casey Eye Institute. Before making any medical decisions, patients are advised to consult with their own doctors. 

Participating in a clinical trial

If you wish to get involved with our clinical trials, please review the criteria for each study and have your genetic test already completed with a diagnosis from a physician. You may then call or 503-494-0020 or email  us to start the evaluation process.

Understanding clinical trials

Find clinical trials

Referring providers

If you wish to refer a patient to a clinical trial call 503-494-0020.