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UsherNet.org > What is Usher-Syndrome > Usher Study by Mary Guest > Genetics
Retinitis Pigmentosa

Genetics

Problems

Reaction of Friends

What to do

Planning of Future

Summary

Genetics

Usher is transmitted genetically by an autosomal recessive gene. To produce a child with Usher both parents must carry the recessive gene. Autosomal implies that the gene is not sex linked and so both males and females are equally affected by the condition. In recessive inheritance both parents carry the gene, but are not aware that they are carriers until the condition is diagnosed in their children. The child with Usher syndrome has two recessive genes for the trait and will transmit these genes to their offspring.

Transmission of Usher syndrome

If a person with Usher marries another with the same syndrome, all their children will be expected to have the same condition. If a person with Usher marries a person without the condition, the children will be unlikely to have the condition, but they will be carriers. If a person with Usher marries another deaf person, the latter should be tested to see if they have the condition, albeit mildly.

A child who is identified as being at high risk for Usher syndrome should be referred immediately to an ophthalmological clinic which has the capacity for full diagnostic testing.

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