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. 2007;91(12):1717–1718. doi: 10.1136/bjo.2007.115154

graphic file with name bj115154.f1.jpg

Figure 1 Fuchs' endothelial corneal dystrophy pedigree and mutation segregation. Affected patients are shown as filled symbols. Heterozygous individuals (I:1, II:1 and II:2) carry the c.1349 T>G transversion mutation resulting in a p.L450W change in the COL8A2 gene, which is indicated by an arrow in the electropherogram. This change was not seen in the unaffected individual (II:3).