What to Know About Luxturna for Retinal Dystrophy

Imagine receiving a medication that treats, or even cures, an illness by changing how genes work in your body. That might have seemed futuristic less than a decade ago. But over the past few years, gene therapy has started to become a reality.

Gene therapy is a type of medicine that changes or replaces a person’s genes to treat medical conditions. Gene therapies can treat conditions such as cancer, genetic blood disorders, eye problems, and more.

In 2017, the FDA approved Luxturna (voretigene neparvovec-rzyl) to treat one type of inherited retinal dystrophy. It was the first medication that could directly treat the root cause of a genetic health condition. Read on to learn more about Luxturna and how it works for retinal dystrophy.

What is Luxturna?

Luxturna is a gene therapy used to treat inherited retinal dystrophy in adults and kids ages 1 and older.

Inherited retinal dystrophies are genetic conditions that affect the retinas. The retina is the part of the eye that contains nerve cells that are sensitive to light. These cells sense the light entering your eyes and tell your brain what you’re seeing. People with retinal dystrophies have vision troubles, including difficulty seeing at night, tunnel vision, or even complete blindness.

Luxturna treats a specific kind of retinal dystrophy caused by mutations in the retinal pigment epithelial 65 kDA (RPE65) gene. This gene makes a protein that helps the retina convert signals sent to the brain. RPE65 gene mutations cause this gene to work less effectively or not at all. This usually causes vision loss starting in childhood that can lead to blindness.

Good to know: Not all people with retinal dystrophy have this gene mutation. A genetic test is needed to determine if Luxturna would be an option for you. Your eye specialist will also need to determine that you still have enough retinal cells available for the treatment. 

What is gene therapy?

Gene therapy medications are designed to alter or replace specific genes in your body. They aim to treat or cure genetic health conditions. Some of them, such as Luxturna, are injected directly into your body. Others use cells that are taken from your body, modified in a lab, and then returned to you.

The FDA approves more gene therapy medications every year. In addition to retinal dystrophy, gene therapy medications can treat conditions such as:

• Several types of cancer, including leukemia, lymphoma, and multiple myeloma

• Sickle cell disease

• Hemophilia A and B

• Duchenne muscular dystrophy

• Spinal muscular atrophy

How does Luxturna work for retinal dystrophy?

Luxturna provides retinal cells with a normal copy of the RPE65 gene. Retinal cells use the working copies to make the proteins needed for the retinas to work properly and, in turn, improve people’s vision.

The RPE65 gene is delivered to retinal cells by a genetically modified virus (called a viral vector). Scientists use special technology to change the virus so that it can’t make people sick.

How much does Luxturna cost? Are there ways to save?

When it was approved, Luxturna was reported to cost up to $425,000 per eye without insurance. This means that a treatment course can add up to $850,000.

This likely won’t be the actual price you pay. There are ways you can save on Luxturna. If you have health insurance, your plan may cover all or part of your Luxturna treatment after some discussion with your healthcare provider. 

Spark Therapeutics, the manufacturer of Luxturna, also offers a patient assistance program — called Generation Patient Services — that offers support for eligible people. The support team can provide resources to help you navigate insurance coverage and financial assistance. Contact them at 1-833-772-7577. 

How is Luxturna given when treating retinal dystrophy?

Luxturna is injected beneath both of your retinas. It’s given as a one-time therapy in each eye. After you receive your first injection, you’ll receive your other injection in the other eye no more than 6 days later. You’ll receive each Luxturna injection while you’re sedated in an operating room.

You’ll also take an oral corticosteroid medication, such as prednisone, throughout this process. You’ll start this medication 3 days before Luxturna is injected into the first eye. Corticosteroids help lower inflammation and prevent immune reactions to Luxturna. After 7 days of treatment, the dose should be slowly lowered over the course of 10 days before it’s stopped.

Keep in mind: Not all eye doctors are qualified to administer Luxturna. Only certain treatment centers can give Luxturna. These centers are staffed with healthcare professionals that specialize in treating retinal dystrophy.

What are the potential side effects of Luxturna?

Since Luxturna is injected underneath the retinas, it can cause side effects in the eyes. Healthcare providers will closely watch you for side effects during and after the time when you receive the medication.

Common side effects

Common Luxturna side effects include:

• Eye redness, swelling, or pain

• Deposits underneath the retina

• Thinning of the cornea (clear layer in the front of the eye)

• High eye pressure

• Cataracts

• A hole or wrinkling in the macula (the area of the retina responsible for sharp central vision)

• Retinal tear

Serious side effects

Luxturna may also cause serious side effects during or after surgery. These include:

• Eye infections

• Changes to the retina, including breaks, thinning, and wrinkling on the surface

• Permanent vision loss

Taking certain precautions can lower the risk of serious side effects. For example, you should avoid high elevations (such as flying in an airplane) or low elevations (such as scuba diving) for at least a week after surgery. These activities can cause an expected post-procedure air bubble to expand underneath your eye. This can cause irreversible vision loss.

Make sure to thoroughly discuss the risks and side effects of Luxturna with your healthcare provider.

How effective is Luxturna when treating retinal dystrophy?

Retinal dystrophy caused by RPE65 mutations is very rare. The condition only affects about 1,000 to 2,000 people in the U.S. This makes studying it in large clinical trials very challenging. But smaller studies have shown that Luxturna may be effective in improving vision.

A randomized controlled trial involving 31 people found that Luxturna significantly improved vision compared to a placebo (an injection with no medication in it). These vision improvements lasted for up to 1 year (the length of the study).

Luxturna’s effectiveness was measured by people’s improvement in navigating an obstacle course at different light levels. People who received Luxturna began noticing improvements as early as 30 days after receiving it.

At 1 year, 65% of people who received Luxturna passed the obstacle course at the lowest light level. No one who received the placebo was able to complete the obstacle course. Results from this study led to Luxturna’s FDA approval.

Researchers have followed people in this study to see how long Luxturna’s effects have lasted. People who received Luxturna have maintained their vision improvements for at least 7 to 8 years. It’s not clear how long the benefits of Luxturna will last, but researchers will continue to monitor long-term effects.

What are some alternatives to Luxturna?

Luxturna is the only gene therapy available to treat retinal dystrophy caused by RPE65 mutations. But supportive treatments can help improve the quality of life for people with retinal dystrophies. These may include:

• Cataract surgery for people also experiencing cataracts

• Tinted lenses for people experiencing light sensitivity

• Low-vision aids

• Night vision aids

There’s currently no cure for retinal dystrophy. But Luxturna and supportive treatments can help improve vision for people with this condition.

Why trust our experts?

Written by:

Kevin Le, PharmD, BCPS, BCPPS

Kevin Le, PharmD, BCPS, BCPPS is a clinical pharmacy specialist in solid organ transplant at Ann & Robert H. Lurie Children’s Hospital of Chicago. He has been working as a pediatric pharmacist since 2016.

Edited by:

Joshua Murdock, PharmD, BCBBS

Joshua Murdock, PharmD, BCBBS, is a licensed pharmacist in Arizona, Colorado, and Rhode Island. He has worked in the pharmacy industry for more than 10 years and currently serves as a pharmacy editor for GoodRx.

Reviewed by:

Nishika Reddy, MD

Nishika Reddy, MD, is an attending physician at the University of Utah. She provides comprehensive and cornea medical care at the Moran Eye Center and serves as clinical assistant professor.

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