Search results
The aim of the site is to increase the level of awareness and understanding of genetic testing and genetic counselling among people living with inherited retinal dystrophies, empowering them to make fully informed decisions about their lives, healthcare and family planning.
Dr Nikolas Pontikos is a Senior Research Fellow at UCL Institute of Ophthalmology, and has been working on inherited retinal conditions for several years.
Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.
The FDA has given Ocugen permission to start their phase 3 gene therapy clinical trial for retinitis pigmentosa (RP).
Biotechnology company Kiora Pharmaceuticals has been given the go-ahead to start in-human testing of a novel “small molecule” treatment, known as KIO-301, for advanced vision loss in retinitis pigmentosa (RP). The phase 1b clinical trial will take place in Adelaide, Australia, and will begin enrolling participants towards the end of 2022.
Our vision is a world where everyone with inherited sight loss is able to live a fulfilling life.
Biotechnology company MeiraGTx has announced encouraging news from its phase 1/2 clinical trial of botaretigene sparoparvovec (previously known as AAV-RPGR), a gene therapy aimed at X-linked retinitis pigmentosa caused by faults in the RPGR gene.
It is important to avoid harming your vision, particularly if you have an inherited sight loss condition.
If you have a diagnosis of an inherited retinal condition, or you are a close relative of somebody living with one of these conditions, you are entitled to access testing and genetic counselling.
A round-up of the latest research into inherited retinal conditions - February 2024.
