Figure 1 of Gupta, Mol Vis 2023; 29:365-377.


Figure 1. Pedigree and chromatogram. A: Pedigree chart of the family with three children affected with GAPO syndrome showing three generations of consanguinity. The half shaded circle depicts the child having only GAPO syndrome but not glaucoma. The younger two siblings who had glaucoma with GAPO syndrome are depicted as full shaded circles. The ages mentioned in the pedigree are those at their last follow up. . “+/+ indicates homozygous wild genotype and +/M1 indicates heterozygous ANTXR1 p.Ile191Thr genotype and +/M2 indicates heterozygous TGFBI p.Ala323Val mutation. B: Chromatograms showing a heterozygous, TGFBI;NM_000358.3:c.968C>T; p.Ala323Val mutation in the proband and younger sibling who had both congenital glaucoma and GAPO syndrome.