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Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.

Cone-rod dystrophies are a group of inherited diseases that affect the photoreceptor (light sensing) cells that are responsible for capturing images from the visual field.

Choroideremia is a genetic condition that causes progressive vision loss, mostly in males.

Usher syndrome is an inherited condition that affects both hearing and vision.

Alstrom syndrome is an inherited condition which affects many body systems.

Achromatopsia is a rare hereditary vision disorder affecting approximately 1 in 30,000 newborn babies.

Familial Exudative Vitreoretinopathy (FEVR) is an inherited disorder that causes progressive vision loss.

Charles Bonnet syndrome (CBS) causes people who have lost a lot of sight to see things that aren’t real (hallucinations).

Pattern dystrophy is an umbrella term for a group of retinal conditions. It is characterized by various patterns of pigment deposition within the macula.

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.