Figure 1. PT33, who had a fundus albipunctatus phenotype, underwent targeted genotyping, which revealed 2 novel RDH5 mutations in trans. A: The fundus photograph shows bilateral disseminated white dots in the mid-periphery with macular sparing, demonstrating the
classic findings of fundus albipunctatus. B: The rod and mixed full-field flash electroretinograms (ffERGs) after prolonged dark adaptation reached high normal values
also under dark adapted conditions, whereas the cone responses remained unchanged (and normal), which is also typical of fundus
albipunctatus.
