Retinitis pigmentosa 25

Retinitis pigmentosa (RP) is a group of related conditions that affect the retina, which is the light-sensitive tissue that lines the back of the eye. RP can be caused by a variety of genes and inherited in different ways; one of those genes is EYS.

The first sign of RP is often difficulty seeing in low light settings (night blindness), which usually occurs during childhood or adolescence. Vision loss is progressive and continues over years or decades. Many individuals with RP are legally blind by adulthood, though the severity of symptoms and age of onset varies by individual.

Quick facts about retinitis pigmentosa 25
Genes: EYS
Inheritance: Autosomal Recessive
Alternative Names: RP
Relevant resources for retinitis pigmentosa 25

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is retinitis pigmentosa 25 inherited?

retinitis pigmentosa 25 is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.

If both parents are carriers of retinitis pigmentosa 25, there’s a one in four chance that their children could develop symptoms.
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What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes retinitis pigmentosa 25, but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for retinitis pigmentosa 25 before or early in pregnancy?

The biggest benefit of screening for retinitis pigmentosa 25 is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Since 90% of children that have a recessive genetic disease like retinitis pigmentosa 25 had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.

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