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. 2016 May 23;6:26564. doi: 10.1038/srep26564

Figure 1. Chromatograms of five de novo mutations and the corresponding fundus pictures of the affected probands.

Figure 1

The sequence variations are marked with red circles. OD and OS represent right and left eyes, respectively. (a) chromatograms and fundus pictures of a 4-month-old male with the c.511C>G (p.L171V) mutation. (b) chromatograms and fundus pictures of a 1-year-old female with the splicing mutation c.790-2A>C. (c) chromatograms and fundus pictures of a 7-year-old female with c.1573C>T (p.Q525*) mutation. (d) chromatograms and fundus pictures of a 10-month-old female with a c.2524C>T (p.Q842*) mutation. (e) chromatograms and fundus pictures of a 1-year-old male with a c.2807C>G (p.S936*) mutation. Notice the existence of chorioretinopathy in panel a (both eyes); the falciform retinal folds in panels a (OS), b (OD), c (OD), d (OS) and e (both eyes); the retrolenticular fibrotic masses in panels c (OS), d (OS) and e (both eyes); cataracts and microphthalmia in panel d (OD); dragged disc and macular in panels a (OD) and b (OS).