What is inherited sight loss?

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.

Inherited retinal dystrophies, which include retinitis pigmentosa (RP), Usher syndrome and Stargardt disease, are the most common cause of blindness in working-age people in the UK. Yet the conditions are rare, with only 25,000 people affected in the UK. For further information on retinitis pigmentosa (RP) see What is retinitis pigmentosa (RP)?

More than 300 genes have been linked to inherited sight loss conditions and many more are yet to be identified.

Genes exist inside all the cells that make up your body. They contain genetic code (DNA) and provide instructions for constructing proteins, which are the building blocks of our bodies and perform a huge variety of roles. Genes have names like RP1, RDH12, ABCA4 and PROM1, which usually give information about the protein they produce. You have two copies of each gene, one copy from your mother and one from your father.

Variation between different people’s copies of a particular gene is completely normal – it’s what makes us all unique and enables us to evolve. However, significant changes are sometimes present that make the instructions provided by the gene incorrect or unreadable, resulting in a faulty protein and ultimately causing problems such as inherited sight loss. We sometimes refer to these changes as mutations, and once they occur they can be passed down through the generations.

Further information about how genes are connected to inherited sight loss and inheritance patterns can be found on the Retina Uk website.

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