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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: Alstrom syndrome

Alstrom syndrome

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

The cover of the winter 2024 edition of Look Forward

Look Forward – Winter 2024 – Issue 184

Welcome to the winter edition of Look Forward. It’s packed full of news from our Conferences, the latest research news and an interview with Hassina Zeriri, one of our funded PhD students. We have also included details of lots of ways you can get involved with Retina UK over the coming months, along with some suggested festive fundraising for the Christmas period.

Retina UK Knowledge-base: Best disease

Best disease

Best disease, also known as Best vitelliform macular dystrophy (BVMD), is is an inherited eye condition associated with progressive degeneration of the macula and is a form of juvenile macular dystrophy.

Retina UK Knowledge-base: Choroideremia

Choroideremia

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

Retina UK Knowledge-base: Retinitis pigmentosa (RP)

Retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited eye condition that affects the photoreceptor cells responsible for capturing images from the visual field.

Retina UK Knowledge-base: Cone-rod dystrophy

Cone-rod dystrophy

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.

Retina UK Knowledge-base: Stargardt disease

Stargardt disease

Stargardt disease is the most common form of juvenile macular dystrophy (or inherited degeneration).

Retina UK Knowledge-base: Usher syndrome

Usher syndrome

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

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.