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Retina UK Knowledge-base: Rare syndromes

Rare syndromes

These very rare syndromes (NARP, Bassen-Kornweig, PXE, Norrie) affect the eyes as well as other parts of the body.

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Joining the research effort

Many research studies could not take place without the participation of people living with inherited sight loss.

Rod-cone dystrophy

Rod-cone dystrophy is an umbrella term used to describe retinal conditions in which the rod-shaped photoreceptors, found mainly in the peripheral areas of the retina, degenerate ahead of the cone-shaped photoreceptors in the centre.

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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).

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London 10K 2024

With entertainment and iconic landmarks on course, this is a sporting moment you’ll remember forever.

Hackney Half Marathon 2024

This fantastic course showcases the historic Broadway Market and vibrant street art of East London. With live bands and entertainment throughout the course, join #TeamRetinaUK for the 2024 event!