Refsum syndrome
Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.
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Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.
Bardet-Biedl syndrome (BBS) is an inherited condition which impacts many parts of the body including the retina.
Achromatopsia is a rare hereditary vision disorder affecting approximately 1 in 30,000 newborn babies.
May is National Walking Month! Are you ready to join #TeamRetinaUK in May for our brand new daily 5K challenge? Your support will allow us to continue supporting those who are living with inherited sight loss.
As well as many of the well known races, we also have places available in hundreds of local runs. Wherever you live, you can run as part of #TeamRetinaUK!
We are currently funding a range of exciting projects and programmes, all of which aim to enhance our understanding of inherited sight loss, and inform the development of treatments for the estimated two million people affected worldwide.
Stargardt disease is the most common form of inherited juvenile macular degeneration. Progressive vision loss is caused by the death of photoreceptor cells in the central portion of the retina called the macula.
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.
Retinitis pigmentosa (RP) is an inherited eye condition that affects the photoreceptor cells responsible for capturing images from the visual field. These cells line the back of the eye in the region known as the retina.
Could you take part in RideLondon 2025 for #TeamRetinaUK?