Fundus albipunctatus (FA) is a very distinct hereditary chorioretinal dystrophy. It is a type of congenital stationary night blindness with an autosomal recessive inheritance pattern. Fundus albipunctatus is characterized by small and discrete dots that are regular and monotonous in their uniformity throughout the fundus from the paramacular region to the equator, both rods and cones are equally affected. Delayed dark adaptation can be demonstrated with delays in recovery of rod and cone function. There is no affective treatment available to restore full receptor cell function. However, a high oral dose of beta-carotene may lead to an improvement in night blindness.
Mutations in the PRPH2 and RDH5 genes have been identified in patients with fundus albipunctatus. Mutations in the PRPH2 gene are the cause of the autosomal dominant form, while mutations in the RDH5 gene result in an autosomal recessive pattern. Also, mutations in the RLBP1 gene have been found in some affected families.