Figure 2.

Molecular and clinical details of a patient from Family B with a mutation in the NR2E3 gene. A: Pedigree is shown (explanation of symbols as in Figure 1). B: Sequence of the NR2E3 gene in normal control (top) and patient B2 with homozygous deletion+insertion (bottom). The dinucleotide undergoing deletion is boxed in top panel. The arrows in the bottom panel mark the inserted sequence. C: Fundus montage of right eye of patient B-2 (aged 10 years) with NR2E3 mutation showing peripheral graying of retina with white flecks due to RPE atrophy with macular sparing with hardly any disc or arterial changes. The right temporal retina had unexplained sub-retinal scarring/gliosis and no obvious bone corpuscular pigment migration at this age.