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

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.

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

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

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

In this condition, retinitis pigmentosa is accompanied by progressive neurological problems, abnormal red blood cells (acanthocytosis) and defective bowel absorption of fat, leading to very low blood levels of cholesterol and absent beta lipoprotein (Abetalipoproteinaemia).

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

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.

• Webinar
• Audio
• Video