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. 

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  
  • Recent News

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    FDA Panel Endorses Gene Therapy For A Form Of Childhood Blindness

    New study shows children benefited most from gene therapy for LCA, a rare eye disease

    Ophthalmic Genetics Service

    The Ophthalmic Genetics Service at Casey Eye Institute is one of the premier centers in the world for patients with genetic diseases of the retina and other areas of the eye. Learn more about the Ophthalmic Genetics Service.