Personalized Medicine’s Impact on Retina Therapies

By Katharine Paljug and Temma Ehrenfeld @temmaehrenfeld
July 28, 2023
Personalized Medicine’s Impact on Retina Therapies

Precision medicine tests and treatments are changing how doctors identify and treat a spectrum of retinal diseases, including childhood cancer. Lean more.

Personalized medicine, the idea of using genetic information to tailor treatment has improved care for cancer, cystic fibrosis, and other chronic diseases.

Many inherited degenerative eye diseases progress differently from one patient to the next, making them harder to treat. In part, that’s because mutations in more than 220 genes can lead to vision loss. Knowing which gene is at work could help doctors predict symptoms.

Ophthalmology was one of the first fields to make important discoveries along those lines. But ophthalmologists are not likely to suggest that patients with inherited eye diseases see a genetic counsellor.

If you are experiencing symptoms that you suspect run in your family, ask your doctor about genetic counseling.


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Personalized ophthalmology

Gene research in ophthalmology began in the 1990s. Genetic testing has allowed researchers to identify subtypes within diseases and tailor treatment.

For example, one study identified genetic clues that suggest a patient can benefit from taking zinc and other supplements to help prevent age-related macular degeneration (AMD). But the vision of patients with different genes can get worse when they take those supplements.

Another important breakthrough is the first gene therapy in the U.S. to target any disease. In 2017, the U.S. Food and Drug Administration approved voretigene neparvovec-rzyl (Luxturna), which delivers a normal copy of a particular gene directly to retinal cells, triggering them to produce a protein that converts light to an electrical signal, allowing the patient to see.

About 2,000 Americans with a mutation on the RPE65 gene suffer a gradual loss of vision, beginning in childhood or their teen years, until they become completely blind.      

Stem cells and retina therapy

Researchers have examined the impact of personalized stem cell treatments on a retina therapy. 

They found that a form of retinitis pigmentosa, a condition in which the back wall of the eye is damaged, was caused when variant genes interrupted the protein structure that gave the retina its fixed shape. Using genetic stem cell technology to transform patients’ skin cells into new retinal cells, researchers were able to reverse that disruption. 

More than 60 different genetic mutations have been linked to retinitis pigmentosa, leading to a huge variation in how the diseases progresses in different patients.

Personalized medicine offers a new approach.

Cancer of the retina

Retinoblastoma, a cancer that can develop before birth, affects approximately one in every 15,000 children born. As with most cancers, early discovery aids treatment.

A genetic test can identify children at risk. It can also determine whether they are likely to develop tumors in one or both eyes.

As a result, doctors can use less chemotherapy, which is especially dangerous in babies and small children. They can also assess whether a child’s siblings — or even their own eventual children — are likely at risk.


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July 28, 2023

Reviewed By:  

Christopher Nystuen, MD, MBA and Janet O'Dell, RN