In this condition RP is accompanied by abnormalities of the fingers and/or toes, obesity, kidney disease and sometimes developmental delay and learning difficulties.
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.
Rachel first noticed she had sight problems at the age of 15. She went to her local eye clinic, who said she had an astigmatism.
In Alström syndrome, inherited progressive eye disease is accompanied by obesity, hearing loss, diabetes, and heart problems.
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.
Charles Bonnet syndrome (CBS) causes people who have lost a lot of sight to see things that aren’t real (hallucinations).
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.
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).