Retinitis Pigmentosa (RP) is an inherited retinal disease which affects the part of the eye that is responsible for creating the images that we see. This causes worsening of the vision over time leading to complete loss of sight. People with RP mainly suffer from night blindness as well as tunnel vision, which means they are unable to see things on the outer corners of their eyes. Additionally, as the disease progresses, they find it difficult to tell apart colours and have light sensitivity, until they completely lose their eyesight. Over 1.5 million people worldwide suffer from Retinitis Pigmentosa, and it is known as one of the leading causes of blindness and visual impairment in those under the age of 60.
Retinitis Pigmentosa is due to passing a faulty gene, RPE65 gene, that makes a protein essential for a healthy retina. Luxturna, also known as Voretigene neparvovec, is a new gene therapy that targets this process to help improve vision and prevent sight from worsening. This is done by the injection of a healthy copy of this gene into the retina using a tiny needle, to help it produce the protein, respond to light, and therefore, improve the vision. It is a simple procedure, where they put the patient under sleep and takes around 1-2 hours. Only one eye is done at a time with a gap of few weeks between the surgeries. It takes a few weeks to regain sight completely back and have full recovery.
Luxturna or Voretigene neparvovec is the first and only approved eye gene therapy in the United Kingdom and the first at Manchester University NHS Foundation Trust (MFT) provided and funded by the NHS services. The first surgery of this type was taken on the 27th of January 2020 at Manchester Royal Eye Hospital by a group of multi-disciplinary team run by two Vitreoretinal eye Consultant surgeons: Mr. Assad Jalil and Ms. Tsveta Ivanova. Not only this gene therapy has been approved in the UK, but also the FDA (food and drug administration) in the United State and European Union has approved it to treat the previously untreatable Retinitis Pigmentosa. The surgery has no known side effects, but patients are advised to report back any changes in vision such as blurred vision or decline in sight, painful eye, or flashes or floaters in the eye (flashes or light or scattered tiny flecks in the visual field).
Credits:
Nada Mohammad – University of Mancheser 5th year medical student
Sources:
- First patient undergoes revolutionary new gene therapy procedure at Manchester Royal Eye Hospital – Manchester University NHS Foundation Trust (mft.nhs.uk)
- Retinitis Pigmentosa | National Eye Institute (nih.gov)
- Retinitis Pigmentosa | National Eye Institute (nih.gov)
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- Wu, Kevin Y et al. “Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development.” Pharmaceutics vol. 15,2 685. 17 Feb. 2023, doi.org/10.3390/pharmaceutics15020685