First Gene Therapy for Blindness Approved in Europe

Fighting Blindness, the national vision research charity, welcomes today’s announcement that the European Commission has approved the gene therapy LUXTURNA (voretigene neparvovec-rzyl). LUXTURNA has been approved for treatment of children and adults with vision loss caused by mutations in both copies of the RPE65 gene and who have sufficient viable retinal cells. Conditions caused by this type of mutation include very rare forms of Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP).

What happens next?

This is a landmark day for people affected by this genetic mutation, however it is just the first step in the process of making the therapy available to patients. This approval means that LUXTURNA can now be marketed in all European Union and European Economic Area countries. The next stage involves a separate application for approval at a national level in each country. The pharmaceutical company, Novartis, will now make applications to national reimbursement agencies in a number of countries, with other countries to follow. The gene therapy is expected to be made available to the first patients in these countries in 2019/2020.

What is a biallelic RPE65 mutation?

The RPE65 gene provides instructions for making an enzyme that is essential for normal vision. Mutations in the RPE65 gene lead to reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision.

Every person has two copies of each gene, one inherited from each parent. The term biallelic means that the individual carries a mutation in both copies of the RPE65 gene (a paternal and a maternal mutation). These individuals experience progressive deterioration of vision over time. This loss of vision, often during childhood or adolescence, ultimately progresses to complete blindness.


LUXTURNA is a one-time gene therapy which works by delivering a normal functional copy of the RPE65 gene directly into the cells of the retina through a single retinal injection. This restores the production pathway for the required enzyme, improving the individual’s ability to detect light. The retinal cells then produce the normal protein that converts light to an electrical signal in the retina, thereby stopping further vision loss and restoring some functional vision. LUXTURNA uses a naturally occurring virus called an adeno-associated virus (which has been modified and rendered harmless) as a vehicle to deliver the normal human RPE65 gene to the retinal cells to restore vision. It is administered as a one-time treatment by a specialist eye surgeon.

For people to benefit from the therapy, they must have enough remaining viable retinal cells in the retina (the thin layer of tissue in the back of the eyes) as determined by a healthcare professional.

In the main clinical trial supporting the approval of LUXTURNA, patients treated with the medicine showed a significant improvement of night vision after one year. The most common side effects were conjunctival hyperaemia (eye redness), cataracts and increased intraocular pressure.

The Big Picture

Although this gene therapy will only benefit a small number of people living with a specific inherited retinal degeneration (IRD), it is extremely positive news for all people living with an IRD. This gene therapy is the first of its kind but there is promising research taking place in many other conditions and the approval of LUXTURNA paves the way for other therapies coming down the line. This is the culmination of many years of research and dedicated work by countless people in the vision community and is a momentous day for all people living with a rare retinal disease.

We will keep you up to date on all development in relation to LUXTURNA in the coming months. For more information please contact Caitríona Dunne on 01 6789 004 or


Target 5000

The approval of LUXTURNA for a specific gene mutation highlights the importance of knowing what gene is causing your condition. The Target 5000, a Fighting Blindness initiative, aims to provide genetic testing for people in Ireland living with an inherited retinal degeneration (IRD). The purpose of this programme is to provide a precise diagnosis and more detailed information about the nature and inheritance pattern of the condition. This information will be to a national patient registry which will enable patients who are eligible for clinical trials or approved therapies to be identified. Click here for more information about Target 5000 and how you can get involved.

Counselling Services

Being diagnosed with a condition causing sight loss can be very difficult. The Fighting Blindness Insight Counselling Service provides a range of supports for people affected by sight loss and their families. Click here for more information about the Insight Counselling Service or contact Insight on 01 674 6496 or

Please note

Fighting Blindness does not endorse any of the products, medications, treatments or information reported here, or on any of our communication platforms. Articles on Fighting Blindness websites and social media are intended for informational purposes only. We strongly advise that you discuss all medications, treatments, and/or products with your doctor.