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.
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SB-007, we’ve been expecting you
Introducing Splice Bio, a genetic medicines company with some exciting developments for Stargardt’s patients.
Research news round-up – Spring 2024
A round-up of the latest research into inherited retinal conditions - February 2024.
Autosomal recessive inheritance
Autosomal recessive inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that both copies need to be faulty to cause sight loss
Could eye drops treat retinal disease in the future?
Researchers have developed PEDF-based eye drops that show promise in slowing retinal degeneration in mice with retinitis pigmentosa, potentially offering a non-invasive treatment option for preserving vision in the future.
First clinical trial participant receives CRISPR-based therapy
An American living with Leber congenital amaurosis 10 (LCA10) has become the first clinical trial participant in the world to receive a CRISPR gene editing treatment in vivo (inside the body).
A genetic diagnosis for RP can give rise to unexpected surprises
James Birtley is a Retina UK supporter and volunteer who is living with retinitis pigmentosa. He is also a scientist with a particular interest in the structure of proteins, the complex molecules that form the building blocks of our bodies.
Therapy development updates
There are many ongoing clinical and laboratory studies around the world, exploring innovative approaches to treating inherited sight loss.
Optogenetics
The BBC covered a story on Monday 24 May about optogenetics partially restoring the sight of a man living with retinitis pigmentosa in France.
Why genes matter
Genes exist inside all the cells that make up your body. They contain genetic code (DNA) and provide instructions for constructing proteins, which are the building blocks of our bodies and perform a huge variety of roles.