David Birch, PhD, Scientific Director at the Retina Foundation of the Southwest, gives an overview of retinitis pigmentosa.

As Dr. Birch explains, retinitis pigmentosa is a group of rare, inherited ophthalmological disorders that affect the retina. Retinitis pigmentosa may be caused by mutations in any of approximately 150 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. The disease is characterized by progressive vision loss and the first sign is usually night blindness. As the condition progresses, affected individuals often develop mid-peripheral scotoma, and eventually total loss of peripheral vision as well as progressive central vision loss. Unfortunately, some retinitis pigmentosa patients will experience total vision loss.

It was recently announced that the first patients have been dosed in the phase 2/3 Sirius and Celeste clinical trials of investigational RNA therapy, QR-421a, for people with USH2A-mediated retinitis pigmentosa and Usher syndrome.

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