Juvenile retinoschisis, X-linked

X-linked juvenile retinoschisis (XLRS) causes the breakdown of the retina, which is the light-sensitive tissue that lines the back of the eye. This disorder particularly affects the centre of the retina, known as the macula. This can lead to difficulty with driving, reading, and recognising faces.

Symptoms usually begin in childhood or adolescence and remain stable during adulthood, with significant vision loss typically occuring in the 50s or 60s. Treatment is aimed at providing support.

XLRS primarily affects males. Female carriers are not usually affected, though in rare cases, they may have some symptoms, including flecks or other signs on their retinas that can be observed during a thorough eye examination. This is not expected to affect their health.

Quick facts about juvenile retinoschisis, X-linked
Genes: RS1
Inheritance: X-linked
Relevant resources for juvenile retinoschisis, X-linked

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 juvenile retinoschisis, X-linked inherited?

juvenile retinoschisis, X-linked is an X-linked condition. X-linked conditions occur when there is a genetic variation on the X-chromosome. For these conditions, the sex of the parent who passes on the gene variation influences the risk for the children.

If the father is affected, all his daughters will have a variation on one of their X-chromosomes and be healthy carriers. Sons can only inherit these x-linked conditions from their mother and therefore, in this situation, will not be affected by the disease.

If the mother is a healthy carrier of an X-linked variation and has a son, there is a 50% chance that they could inherit this variant and be affected by the disease. If they have a daughter, there is a 50% chance that they will be a healthy carrier (just like her mum).

Another way of looking at this is that there is a 25% chance of having an affected son and a 75% chance that the child will not be affected by the disease.

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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 juvenile retinoschisis, X-linked, 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 juvenile retinoschisis, X-linked before or early in pregnancy?

The biggest benefit of screening for juvenile retinoschisis, X-linked 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.

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