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All Eyes on Gene Therapy

By Valerie Castelluccio and Vera Shively, Lurie Children's Division of Genetics, Birth Defects and Metabolism

In the past few years, exciting new therapies and clinical trials for genetic eye (ocular) conditions have emerged all over the world. At Lurie Children’s, we help qualified patients to enroll in clinical trials, including gene therapy trials.

Genetic Ophthalmology: Genetics & Disorders of the Eye

There are many ocular disorders with many different causes. Ocular disorders of childhood are often due to genetic changes (sometimes called mutations). Genetic changes can cause many different ocular disorders, including:

  • Retinitis pigmentosa
  • Oculocutaneous albinism
  • Familial exudative vitreoretinopathy (FEVR)
  • Achromatopsia
  • Congenital cataracts
  • Leber congenital amaurosis
  • Cone rod dystrophy
  • Retinal dystrophy.

When a child has signs or symptoms of one of these conditions, genetic testing may be recommended. Genetic testing is typically performed on a blood or saliva sample to see if a genetic change can be identified that is causing the child's ocular symptoms. 

Gene Therapy

Like all health concerns, when someone has a genetic condition the ultimate goal is an effective treatment, possibly a cure. Gene therapy has the potential to meet this goal. It is a treatment designed to address specific genetic changes that cause health problems. Ideally, gene therapy would be able to reach the affected cells in the body in order to prevent symptoms. Yet, for many genetic conditions it is not easy to deliver a gene therapy to the desired cells or body system. For genetic conditions of the eye, gene therapy delivery is easier. In fact, gene therapy can be delivered directly into the eye, making its way to most, if not all, desired ocular cells.


Voretigene neparvovec (Luxturna®) is one of the first Food and Drug Administration (FDA) approved ocular gene therapies. It is given by injection directly into the eye. Luxturna is approved for RPE65-related diseases such as retinitis pigmentosa or Leber congenital amaurosis. This gene, RPE65, has instructions for making a protein that is needed for normal vision. Luxturna improves vision in individuals with pathogenic variants (gene changes causing the condition) in their RPE65 gene. Lurie Children’s has begun the initial steps required to be approved as a site to administer Luxturna.

Ocular Genetics at Lurie Children’s

A genetic counseling clinic is available in the Division of Ophthalmology for patients with established or suspected certain ocular genetic conditions. The genetic counselor can discuss what is known about the genes and inheritance of your ocular genetic disorder, available genetic testing options and review your test results in great detail.

When an ocular condition is identified, we search for available clinical trials and therapies. There are a number of clinical trials for ocular gene therapies across the nation. If one is available, and the patient qualifies, we can help enroll the patient into the trial. The future looks promising for gene therapy to treat a variety of ocular genetic conditions.

More Information

Learn more about Our Division of Genetics, Birth Defects & Metabolism

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