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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.

A man looking into an eye examination device

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.

A man looking into an eye examination device

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).

A man looking into an eye examination device

Bardet-Biedl syndrome (BBS)

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

A man looking into an eye examination device

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.

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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.

Jing Yu - a man wearing an orange t shirt facing the camera. There is a microscope to his left on a desk.

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.