Genetics and Retinitis Pigmentosa

Retinitis pigmentosa can be classified according to its inheritance pattern. The different forms of RP result from the presence of one or two abnormal genes ("faulty genes"). Genes are the instructions or recipes the body uses to build and repair itself. Genes determine many of your body characteristics including the colour of your hair and eyes. There are three possible inheritance patterns, Autosomal Dominant, Autosomal Recessive and X-Linked.

The information provided in this section gives a simple explanation of the genetics of RP; it is not intended to enable an individual with RP to identify which genetic form of RP he or she may have. This diagnosis is not always straightforward and should be made after consulting an ophthalmologist or geneticist.