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Retina UK Knowledge-base: Refsum syndrome

Refsum syndrome

Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.

A man looking into an eye examination device

Classic retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited eye condition that affects the photoreceptor cells responsible for capturing images from the visual field. These cells line the back of the eye in the region known as the retina.

A man looking into an eye examination device

Usher syndrome

Usher syndrome is an inherited condition that affects both hearing and vision. The symptoms of Usher syndrome consist of childhood-onset hearing loss, progressive vision loss caused by degeneration of the retina (retinitis pigmentosa), and sometimes balance problems.

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