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.
Charles Bonnet syndrome (CBS) causes people who have lost a lot of sight to see things that aren’t real (hallucinations).
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.
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.
Bardet-Biedl syndrome (BBS) is an inherited condition which impacts many parts of the body including the retina.
The team have found the cause of disease in the first ever family tree drawn up at Moorfields Eye Hospital over 35 years ago, which had remained unsolved until now.
The BBC World Service has undertaken an investigation of unproven treatments for retinitis pigmentosa (RP) and has produced a documentary film, called Blind Faith, which is available on BBC iPlayer.
A round-up of the latest research into inherited retinal conditions - February 2024.
Nanoscope Therapeutics has announced positive results from their two year randomised controlled phase 2b optogenetic therapy trial for late-stage retinitis pigmentosa (RP).
In February 2022, ProQR announced a disappointing outcome for their phase 2/3 trial of sepofarsen for Leber congenital amaurosis type 10 (LCA10).