Contributor: Gordon K. Klintworth
Retinitis punctata albescens is a progressive degenerative disorder of the retina characterized by the the presence of numerous white dots at the level of the retinal pigment epithelium. It has an autosomal dominant mode of inheritance and at least some cases are due to mutation in the RDS gene. The dots are found throughout the fundus, but tend to spare the posterior pole. Despite affected the same parts of the retina as retinitis pigmentosa the pigmentary changes are absent.The retinal pigment epithelium has hyperchromatic nuclei, irregularly distributed melanin (especially at the posterior pole), and cytoplasmic vauoles. Retinitis punctata albescens is one of several retinal diseases with white retinal dots (flecked retina syndrome). Other conditions with white dots include fundus albipunctatus (Stargardt disease) and Doyne familial maculopathy. A mouse model of retinitis punctata albescens has been identified. The appearance of the fundus may resemble retinitis punctata albescens in Leber congenital amaurosis.