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Your doctor or genetic counsellor will spend some time asking about other people in your family to try to work out the way in which your particular faulty gene has been passed down through the generations – this is referred to as the inheritance pattern.
Tomasz Tomkiewicz is undertaking a PhD studentship funded by Retina UK and The Macular Society.
Biotechnology company ProQR has announced that its clinical trials of sepofarsen for Leber congenital amaurosis type 10 and ultevursen for USH2A-mediated retinitis pigmentosa will be wound down with immediate effect.
A discovery made as part of research funded by Retina UK has led to a prestigious award of $2.5 million, enabling scientists to undertake more in-depth investigations and work towards a treatment for a particular type of retinitis pigmentosa.
Many inherited sight loss conditions occur when cells in the retina, which is the light-sensitive region at the back of the eye, deteriorate in an unpredictable way. These conditions are often referred to as inherited retinal dystrophies.
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Amar Latif is an adventurer, entrepreneur, TV presenter and public speaker. He became an Ambassador for Retina UK in 2020.
Stem cells are a special type of cell, which under the right conditions can be encouraged to grow into any other type of cell in the body, including retinal cells (rods, cones and retinal pigment epithelial cells).
When we talk about gene therapy we are usually referring to use of a harmless virus, called a vector, to deliver a normal copy of a defective gene into the cells of the eye.
In recent years there has, understandably, been a lot of excitement around cutting-edge therapies that target the specific genetic faults underlying inherited sight loss.
