Perspective on Genes and Mutations Causing Retinitis Pigmentosa

Abstract

The goal of this perspective is to summarize the current state of the molecular diagnosis of retinitis pigmentosa (RP) and its relevance to clinical practice. The comments are limited largely to nonsyndromic, nonsystemic forms of RP, using autosomal dominant RP (adRP) as an example. It is important to recognize, though, that what is true for simple RP is true in general for most other forms of inherited retinal degeneration. There has been rapid progress in identifying genes and mutations causing all forms of retinal disease, including multifactorial diseases such as age-related macular degeneration. Of course,the specific genes are different and the clinical findings are distinct, but the implications for clinical practice are similar. For example, what is true for RP alone is also true for Usher syndrome, Bardet-Biedl syndrome, and familial macular degeneration. That is, many genes and mutations are also known for these diseases and have relevance to clinical practice. A list of genes causing RP and other retinopathies can be found at the RetNet Web site.1 A number of recent reviews address the biological bases of RP.2-5