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

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.

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.

X-linked retinoschisis (XLRS) is an inherited condition that causes early loss of mainly central vision in males.

A recording of the Retina UK Professionals' Conference on 27 September 2024. The Conference was held at the Pendulum Hotel in Manchester and online.

• Conference
• Audio
• Video

James, who lives with retinitis pigmentosa, is running the TCS London Marathon in April 2025 to raise vital funds for Retina UK.

• Case study - community
• Written

Cataracts and macular oedema are both associated with inherited sight loss and may respond to treatment.

Since we were founded in 1976, we have invested more than £17 million into some of the most pioneering medical research - because of amazing supporters like you.

Support Retina UK this summer by organising a bag packing session at your local supermarket.

• Fundraising Events
• United Kingdom