This patient has fundus albipunctatus, a rare autosomal recessive form of congenital stationary night blindness. The characteristic numerous small white-yellow specks spare the fovea.
Learning Points:
Fundus albipunctatus is caused by a mutation in the RDH5 gene, which codes for retinol dehydrogenase, which converts 11-cis retinol to 11-cis retinal within the RPE.
The optic disc, retinal vessels, visual acuity, visual fields, and color vision are usually normal. Electroretinograms (ERG) are typically depressed but normalize after prolonged dark adaptation, in contrast with retinitis punctata albescens.
