Saturday, April 11, 2009

Retinitis pigmentosa

Retinitis pigmentosa (RP) is the most common type of inherited
retinal degenerative disorder. Like many other eye conditions it
is genetically heterogeneous, with autosomal dominant (25%),
autosomal recessive (50%), and X linked (25%) cases. In
isolated cases the mode of inheritance cannot be determined
from clinical findings, except that X linked inheritance can be
identified if female relatives have pigmentary abnormalities and
an abnormal electroretinogram. Linkage studies have identified
three gene loci for X linked retinitis pigmentosa and mutations
in the rhodopsin and peripherin genes occur in a significant
proportion of dominant cases.

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