Fundus albipunctatus: A case report in Thailand and a review of the literature

Fundus albipunctatus (FA) is classified as a congenital stationary form of night blindness with classic fundus and electrophysiologic findings. Characteristic fundoscopy reveals numerous whitish-yellow spots located in the retinal pigment epithelium that extend from the posterior pole to the periphery. Electroretinographic (ERG) recordings are very distinctive in patients with FA. The amplitude of scotopic (rod) ERG is significantly reduced when recorded after conventional dark adaptation, but it becomes larger and comes to normal range after prolonged dark adaptation (more than two hours). FA has been attributed to mutation in the RDH5 gene, which encodes 11-cis retinol dehydrogenase, an enzyme that is essential for the regeneration of visual pigments in the retina. To date, at least 100 patients with FA and 44 mutations in the RDH5 gene have been reported worldwide. FA is a rare disease that is inherited as an autosomal recessive trait. Here, we report the first case of FA in Thailand and a review of the literature.