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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.

Retina UK Knowledge-base: Usher syndrome

Usher syndrome

Usher syndrome is an inherited condition that affects both hearing and vision.

A view of a group of people seated all facing to the left of the image. The focus is on a lady holding a microphone. She has long dark hair

Joining the research effort

Many research studies could not take place without the participation of people living with inherited sight loss.

Knowledge-base, Bardet-biedl syndrome

Bardet-Biedl syndrome (BBS)

Bardet-Biedl syndrome (BBS) is an inherited condition which impacts many parts of the body including the retina.