Figure 3. Molecular and clinical details of patient from Family C with a mutation in the MFRP gene. A: The family pedigree is shown. B: Sequence of MFRP gene in normal control (top panel) and in patient C-1 (bottom panel). The arrows in the top and bottom panels respectively, mark the SNP c.492C>T (rs36015759) and the position of the single base deletion in patient C-1. C: Fundus montage of the right eye of patient C-1 (aged 21 years) from Family C with an MFRP gene mutation showing perifoveal pigment deposits, relative parafoveal sparing, diffuse extensive graying of retina with white flecks extending from arcades to the peripheral retina, and the presence of a peripheral reticular, bone corpuscular type of pigmentary retinopathy. There is not much disc pallor or arterial narrowing.