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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.
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.
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).
People with NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) syndrome have neurological (muscle weakness, epilepsy and memory problems) and balance problems in addition to retinitis pigmentosa.
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).
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.
Professor Mariya Moosajee looks at the latest research, clinical trials and treatment prospects for people affected by Usher’s syndrome.
Prof Mariya Moosajee at Moorfields Eye Hospital has asked us to share the message below about the clinical trial she is running. This trial is for a treatment that targets a particular section of the USH2A gene.
