Inherited Retinal Diseases and Degenerations / Retinitis Pigmentosa

Inherited Retinal Diseases and Degenerations / Retinitis Pigmentosa

Our physicians deliver comprehensive care for individuals with inherited retinal degenerations (IRDs)—rare genetic disorders caused by mutations in genes essential for vision. The Byers Eye Institute at Stanford integrates thorough clinical expertise with specialized testing and participation in clinical trials exploring gene therapy and cell transplants.

Finding Answers Early

Our physicians are able to make early and accurate diagnoses using comprehensive testing.

For instance, we use electroretinography (ERG) to measure the electrical response of the eye's light-sensitive cells (rods and cones). This test enables us to measure photoreceptor function.

We can also evaluate the structure of the retina with imaging tools, including optical coherence tomography (OCT) and autofluorescence imaging.

Genetic testing is an integral part of care for patients with IRDs. Via the Medical Genetic Department at Stanford, patients can receive genetic diagnostic testing and counseling.

Access to Cutting-Edge Treatments

Our physicians may discuss potential treatments, including clinical trials and referrals to vision rehabilitation services. These discussions and recommendations are tailored for each condition and patient.

Participate in a Clinical Trial

The Byers Eye Institute at Stanford has an active research program, with several clinical trials of gene therapy and stem cell transplants for specific types of retinal degeneration in progress.

Referrals

Patients of all ages are seen by our Inherited Retinal Disorders physicians in consultation at Byers Eye Institute. To request an appointment based on your doctor's referral, call (650)723-6995. Appointments must be made well in advance.

Conditions We Treat

We care for patients with all types of IRDs. This includes, but is not limited to:

• Rod-Cone Dystrophy (Retinitis Pigmentosa)

• Inherited Macular Dystrophy (including Stargardt Disease and Macular Dystrophy)

• Early-onset, Severe Retinal Dystrophy (including Leber Congenital Amaurosis)

• Cone Dysfunction Syndromes (including Cone Dystrophy, Cone-Rod Dystrophy, and Achromatopsia)

• Syndromic Disorders (including Usher Syndrome)

• Choroideremia