Figure 3 of Sodi, Mol Vis 2014; 20:1717-1731.


Figure 3. Fundus pictures of two brothers of the same family, who carry the same genotype (c.2299del (p.Glu767Serfs*21) USH2A variant on one allele and c.13130C>A (p.Ser4377*) USH2A on the other allele). One patient (A, patient GF) shows a typical form of retinitis pigmentosa while the other one (B, patient GS) presents with an atypical fundus appearance with mild retinal dystrophy and rare pigment deposits. In the second case, the clinical diagnosis is supported by typical visual field and electrophysiological abnormalities. The coexistence of two different clinical pictures in the same pedigree emphasizes the poor genotype-phenotype correlation reported in our series.