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Retinitis Pigmentosa

Inheritance patterns and prenatal diagnosis

Inheritance patterns
For retinitis pigmentosa inheritance may be autosomal dominant, autosomal recessive or X-linked.

In other related conditions inheritance patterns depend upon the specific condition. For example Best disease, butterfly-shaped dystrophy, and Bull's-eye dystrophy are autosomal dominant. Choroideremia is X-linked, and Usher and Refsum (see Metabolic diseases ), Bardet-Biedl syndromes are autosomal recessive.

Many of the genes causing the various forms of Retinitis Pigmentosa and related disorders have now been identified and genetic testing for some of these conditions is now available.

Prenatal diagnosis
Prenatal diagnosis is now possible in some forms of Retinitis Pigmentosa and other inherited retinal disorders but only in those cases where the genetic change causing the condition has been identified.

View What are the symptoms? What are the symptoms?  |  Is there support? View Is there support?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated August 2006 by Professor A T Moore, Duke-Elder Professor of Ophthalmology, Institute of Ophthalmology, London, UK.

 

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