Fig. 3
From: A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
Retinal features of Roifman syndrome in patient 1. Retinal exam featuring normal optic discs, dull foveal reflex, attenuated retinal vessels (blue arrow) and background retinal pigment epithelial changes in the middle and far periphery (white arrow).
