13th February 2025

Retinitis pigmentosa

Retinitis pigmentosa is the most common inherited cause for retinal degeneration. Mutations can be inherited in an autosomal dominant, autosomal recessive or X-linked manner and can be isolated or, less commonly, associated with systemic disease. Systemic associations include:

Table 4 Systemic diseases associated with retinitis pigmentosa

These mutations result in rod photoreceptor dysfunction, presenting clinically as night blindness (nyctalopia) in the first instance, with subsequent degeneration of cone photoreceptors and the retinal pigment epithelium, which causes clinical deterioration and progressive peripheral vision loss.