endoplasmic reticulum membrane
11-cis-retinol dehydrogenase (RDH5) can reversibly catalyse the oxidation of all-trans-retinol (atROL, bound to RLBP1) to all-trans-retinal (atRAL) in retinal pigment epithelium (RPE) cells using NAD+ as cofactor. Defective RDH5 causes retinitis punctata albescens (RPA, also called fundus albipunctatus, FA; MIM:136880). RPA (an autosomal recessive disorder) is a form of stationary congenital night blindness characterised by a reduced regeneration rate of rod and cone photoreceptors and yellow-white lesions within the retina or the RPE. Mutations causing RPA include G238W (Gonzalez-Fernandez et al. 1999, Yamamoto et al. 1999), R280H (Gonzalez-Fernandez et al. 1999, Kuroiwa et al. 2000, Nakamura et al. 2000), A294P (Gonzalez-Fernandez et al. 1999), V177G (Gonzalez-Fernandez et al. 1999, Kuroiwa et al. 2000) and R157W (Cideciyan et al. 2000).