Refsum syndrome
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.
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NARP syndrome
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.
Bassen-Kornweig syndrome
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).
Bardet-Biedl syndrome (BBS)
Bardet-Biedl syndrome (BBS) is an inherited, rare condition which impacts many parts of the body including the retina.
Alstrom syndrome
Alstrom syndrome is an inherited condition which affects many body systems.
A week in the life of a researcher
On a typical week in the stem cell lab there are many different experiments going on. Different people work on their individual projects, but we often collaborate to share ideas and help each other.
Retina UK-funded discovery leads to $2.5 award for further research
A discovery made as part of research funded by Retina UK has led to a prestigious award of $2.5 million, enabling scientists to undertake more in-depth investigations and work towards a treatment for a particular type of retinitis pigmentosa.
Applying for research funding
We provide funding for innovative, high quality research projects investigating the causes and potential treatments for all forms of inherited retinal disease.
A blog from the research coal face
Jing Yu is a bioinformatician with the Eye Research Group at Oxford University, and is part of the UK Inherited Retinal Dystrophy Consortium (UKIRDC) team, funded by a Retina UK grant.
Research news roundup – innovation in 2022
Despite the knock-on effects of the pandemic, there’s been a lot going on this year in the world of research! Here are snapshots of a few stories that have appeared in the Research News section of our website in 2022.