Sunday 20 April 2008
The retinal pigment epithelium (RPE) is a monolayer simple epithelium apposed to the outer surface of the retinal photoreceptor cells.
RPE is involved in many aspects of outer retinal metabolism that are essential to the continued maintenance of the photoreceptor cells, including many RPE-specific functions such as the retinoid visual cycle and photoreceptor outer segment disc phagocytosis and recycling.
RPE65 is a unique RPE-specific microsomal protein. It is conserved in vertebrates and was a candidate for the site of mutation in hereditary retinal disorders implicating the RPE.
germline mutations in
- Leber congenital amaurosis type 2 (LCA2) (MIM.204100).
- autosomal recessive retinitis pigmentosa type 20