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Retina UK Knowledge-base: Refsum syndrome

Refsum syndrome

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

Knowledge-base, Bardet-biedl syndrome

Bardet-Biedl syndrome (BBS)

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

Retina UK Knowledge-base: Achromatopsia

Achromatopsia

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

Retina UK Knowledge-base: Pattern dystrophy

Pattern dystrophy

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

Retina UK Knowledge-base: Gyrate atrophy

Gyrate atrophy of the choroid and retina

Gyrate atrophy of the choroid and retina, shortened to gyrate atrophy, is an inherited disorder of protein metabolism characterised by progressive vision loss.

A group of supporters taking on 5K A Day In May.

5K A Day In May 2026

May is National Walking Month! Are you ready to join #TeamRetinaUK in May for our daily 5K challenge? Your support will allow us to continue supporting those who are living with inherited sight loss.

A group of supporters taking on 5K A Day In May.

5K A Day In May 2025

May is National Walking Month! Are you ready to join #TeamRetinaUK in May for our daily 5K challenge? Your support will allow us to continue supporting those who are living with inherited sight loss.

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