
Refsum syndrome
Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.
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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.
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.
Usher syndrome is an inherited condition that affects both hearing and vision.
Leber Congenital Amaurosis (LCA) is a rare genetic eye disease that appears at birth or in the first few months of life.
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.
Bardet-Biedl syndrome (BBS) is an inherited condition which impacts many parts of the body including the retina.
This edition of Look Forward includes the very latest news about an experimental therapy by Retina UK funded researchers, an article about one of our PhD students, a calendar of events in 2025, the usual research news round-up and lots more. Please take the time to complete our Sight Loss Survey, enclosed with this edition. You can find out more about the Survey.
X-linked retinoschisis (XLRS) is an inherited condition that causes early loss of mainly central vision in males.