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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.
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.
In Alström syndrome, inherited progressive eye disease is accompanied by obesity, hearing loss, diabetes, and heart problems.
In this condition RP is accompanied by abnormalities of the fingers and/or toes, obesity, kidney disease and sometimes developmental delay and learning difficulties.
Funding from Retina UK has allowed to team to explore the viability of gene therapy as a treatment for RP and related conditions, and build a pipeline of clinical trials.
Inherited progressive sight loss is caused by a range of rare genetic conditions. We specialise in those which affect the retina.
In Refsum Syndrome, visual impairment is accompanied by hearing loss, neurological problems, heart problems, dry or flaky skin, loss of sense of smell, and oddly shaped red blood cells.
In February 2022, ProQR announced a disappointing outcome for their phase 2/3 trial of sepofarsen for Leber congenital amaurosis type 10 (LCA10).
