Light skin of UVA can penetrate deeply into the dermis in persons with light skin pigmentation with little protective melanin pigment. The characteristic of fair skin, red hair, and freckling is associated with high amount of pheomelanin, little amounts of eumelanin. This phenotype is caused by a loss-of-function mutation in the melanocortin 1 receptor (MC1R) gene. However, variations in the MC1R gene sequence only have considerable influence on pigmentation in populations where red hair and extremely fair skin is prevalent. The gene variation’s primary effect is to promote eumelanin synthesis at the expense of pheomelanin synthesis, although this contributes to very little
Retinal pigment epithelium degeneration and retinitis pigmentosa. RPE are also involved in diabetic retinopathy. Gardner syndrome is characterized by FAP (Familial Adenomatous Polyps), osseous and soft tissue tumors, retinal pigment epithelium hypertrophy and impacted teeth. Retinal pigment epithelium The pigmented layer of retina or retinal pigment epithelium (RPE) is the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells. The RPE was known in the 18th and 19th centuries as the pigmentum nigrum, referring to the observation that the RPE is dark (black in many animals,