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. 2020 Aug 11;184(3):762–772. doi: 10.1002/ajmg.c.31824

FIGURE 5.

FIGURE 5

Family 56 has multiple variants in CNGA3, KIZ, and RHO (see Table 1 for details). (a) Family tree highlighting the proband (56‐1, arrowhead), no reported consanguinity. (b) The clinical phenotype in proband 56‐1 aged 9 years shows a normal fundus appearance on the UWF color fundus images. UWF FAF revealed foveal hyperautofluorescence. SD‐OCT was not available for this patient due to their nystagmus. The clinical features appear consistent with CNGA3‐related achromatopsia