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Funding paves the way for achromatopsia

A research project funded by Retina UK helped pave the way to a new gene therapy that has recently produced encouraging results in two young people with achromatopsia, a condition that causes complete colour-blindness and poor overall vision from birth.

Types of genetic testing

This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing

x-linked inheritance

X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.

Two women, one standing and one seated. The seated women has her face in a device on the wall

Brain stimulation may reduce hallucinations

UK researchers have discovered that passing a weak electrical current between electrodes on a person’s scalp may lead to a reduction in frequency of the visual hallucinations experienced by some people living with sight loss.

Significantly worse vision found in female carriers of X-linked RP and Choroideremia

It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss.

Gene Therapy improves functional measures in XLRP

Beacon Therapeutics announced positive results from their phase 2 gene therapy trial for X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene.

Potential drug targets identified for RP

A recently published study has described numerous disease mechanisms that appear to be common across different types of inherited sight loss, suggesting that there is significant potential for drug treatments that could work regardless of the underlying causative gene.

Meet a researcher: Hassina Zeriri

It’s not very often that we come across a researcher working on a project inspired by their own lived experience of a sight loss condition.

Autosomal dominant inheritance

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.