What is Leber congenital amaurosis?

Leber congenital amaurosis is an early onset form of retinitis pigmentosa. Vision is abnormal in early childhood and gets progressively worse as the diseased cells in the retina deteriorate. One gene vital for sight is called RPE65. A mutation in RPE65 causes one form of this early onset blinding disease.

Genetic testing can determine if you or a loved one has a mutation in your RPE65 gene.

What diseases can cause blindness?

Although RPE65 mutations leading to blindness are relatively rare, more than three out of every five cases of blindness among infants are caused by an inherited eye disease.

Researchers at Penn in Dr. Bennett’s lab are currently working to develop treatments for other inherited retinal disorders.

How does gene therapy for RPE65 deficiency work?

The revolutionary gene therapy treatment gives patients a normal copy of the gene RPE65 with a surgical injection behind the retina, the light sensitive cells at the back of the eye. A mutation in RPE65 prevents normal vision. By delivering a correct copy of the gene, sight is restored.

How effective is this treatment?

The one-time treatment improved vision in the vast majority of patients, giving them greater independence to navigate tasks such as playing sports, using a computer and attending college.

What ages will be treated by this therapy?

Initially the treatment will be for those aged twelve-months through adulthood. There is no upper age limit for treatment.

Is this therapy right for me?

About 6,000 people worldwide will be eligible for the therapy, including 1,000 to 2,000 people in the United States.

To know if you might be eligible for this therapy, which treats blindness due to RPE65 mutations, you must first know whether a gene is causing your blindness. To get more information, including genetic testing information, please complete the form or call 215-316-5132 to request more information or an appointment at Penn Medicine.

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