Figure 1. Nanophthalmos families. In each panel, affected individuals are shown with filled black symbols. Sampled individuals have additional identification number in addition to generation numbers. For sampled individuals, genotypes are shown for relevant putative coding mutations in PRSS56. A: Family 1, (Maritime, mutation p.G320R). Consanguinity results from a closed inheritance loop higher in the pedigree, not shown. B: Family 2 (Maritime, mutations p V302F, c.828_833 het_ insG). C: Family 3 (Mexico, mutations p.G237R, p.C395P). D-I: Clinical imaging of the right eye of patient 172: D: external photo, with rigid contact lens in situ; E: color disc image; F: optical coherence tomography of the macula; G: contact B-scan ultrasound; H: ultrasound biomicroscopy, with anterior chamber and lens thickness dimensions; I: choroidal thickening on Immersion B-scan ultrasound.