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Rachael first noticed she had sight problems at the age of 15. She went to her local eye clinic, who said she had an astigmatism.

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

Stickler syndrome is a genetic connective tissue disorder.

Alstrom syndrome is an inherited condition which affects many body systems.

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

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

These very rare syndromes (NARP, Bassen-Kornweig, PXE, Norrie) affect the eyes as well as other parts of the body.

Charles Bonnet syndrome (CBS) causes people who have lost a lot of sight to see things that aren’t real (hallucinations).

Pattern dystrophy is an umbrella term for a group of retinal conditions. It is characterized by various patterns of pigment deposition within the macula.

The content on this site will have answered some of your queries about inherited sight loss and associated syndromes, but everyone’s circumstances are different and you may have further questions.