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Joining the research effort

Many research studies could not take place without the participation of people living with inherited sight loss.

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.

x-linked inheritance

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

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.

Types of genetic testing

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