Emerging treatments

Gene therapy

Adeno-associated viral (AAV) vectors can be used to transfer genes to photoreceptors and retinal pigment epithelium (RPE) cells. In a phase 3 trial of the AAV vector voretigene neparvovec, navigational abilities, light sensitivity, and visual fields improved and persisted to 1 year follow-up in patients with confirmed biallelic RPE65 mutations.[37] Previous studies have shown variable effect durability depending on the gene constructs, vector formulations, and surgical approaches used.[38][39][40]​​ Clinical trials of AAV vectors have also started in patients with X-linked choroideraemia.[41][42]​ ​Voretigene neparvovec is approved by the European Medicines Agency and the US Food and Drug Administration for the treatment of biallelic RPE65 mutation-associated retinal dystrophy. It remains the only gene therapy approved for retinitis pigmentosa, where it is only authorised for a very small subset of patients who are positive for the RPE65 gene mutation (approximately 0.3%-1% of all cases).[7][43]

Docosahexaenoic acid

Docosahexaenoic acid is an omega-3 fatty acid that has been used with limited success in patients with retinitis pigmentosa. One study used docosahexaenoic acid in conjunction with vitamin A (retinol) therapy and showed a small effect on disease progression in the first 2 years of treatment.[44][45][46]​ However, long-term supplementation (up to 4 years) did not effectively slow disease progression in male patients with X-linked retinitis pigmentosa.[47]​ Overall, one Cochrane review concluded that it is uncertain if treatment with docosahexaenoic acid offers benefits to people with retinitis pigmentosa.[35]

Stem-cell therapy, transplantation, and artificial vision

These are all areas that are currently being investigated in the hope that they may become therapies for patients with retinitis pigmentosa and conditions associated with night blindness.​ Retina UK: research Opens in new window

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