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Stickler syndrome is a genetic connective tissue disorder.

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).

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).