Usher syndrome
Usher syndrome is an inherited condition that affects both hearing and vision.
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Stickler syndrome
Stickler syndrome is a genetic connective tissue disorder.
Alstrom syndrome
Alstrom syndrome is an inherited condition which affects many body systems.
Refsum syndrome
Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.
Rare syndromes
These very rare syndromes (NARP, Bassen-Kornweig, PXE, Norrie) affect the eyes as well as other parts of the body.
Charles Bonnet syndrome
Charles Bonnet syndrome (CBS) causes people who have lost a lot of sight to see things that aren’t real (hallucinations).
Bardet-Biedl syndrome (BBS)
Bardet-Biedl syndrome (BBS) is an inherited condition which impacts many parts of the body including the retina.
Pattern & Doyne honeycomb dystrophy
Pattern dystrophy is an umbrella term for a group of retinal conditions. It is characterized by various patterns of pigment deposition within the macula.
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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.
Webinar: Usher syndrome mini series – part one
This webinar covers key questions and topic areas including what Usher syndrome is, how to get a diagnosis, both clinical and genetic, and what will happen after this.