Figure 2.

Retinal phenotype of patient with homozygous c.498_499 mutation in MFRP. (A and B) Pseudocolor wide-field fundus images of OD and OS demonstrating scattered mid-peripheral pigmentations and mid-peripheral and peripheral areas of hypopigmentation bilaterally suggesting retinal atrophy. (C and D) Scanning laser microscopy (SLO) wide-field fundoscopy images of OD and OS identify areas of reduced autofluorescence in the mid-peripheral retina with central macular sparing. (E) Spectral-domain optical coherence tomography (SD-OCT) cross-sectional image of OS across the fovea reveal macular thickening. However, a clear foveal external limiting membrane and ellipsoid zone line suggests that photoreceptors are still intact across the fovea. Color images are available online.