Sunday 20 April 2008
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