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Choroideremia is a rare genetic condition resulting in progressive sight loss in men.

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• Choroideremia

Choroideremia is a genetic condition that causes progressive vision loss, mostly in males, and is due to degeneration of the specialised light-sensing photoreceptor cells that line the back of the eye.

Inherited progressive sight loss is caused by a range of rare genetic conditions. We specialise in those which affect the retina.

Russ was diagnosed with Choroideremia at the age of 11, after visiting caves in Spain and not being able to see anything.

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A general overview of the clinical trials process and practicalities, including issues to consider if you are given the opportunity to take part.

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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.

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.

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

“All the promising research makes you feel like there is light at the end of that very dark tunnel after all.”

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