Figure 4 of Jelodari-Mamaghani, Mol Vis 2013; 19:333-347.


Figure 4. LTBP2 mutation p.Arg495Gln in a family with primary open angle glaucoma. A: Pedigree of the family. 216T, 211L, and 216L are the ID numbers of living members of the family. Filled circles and squares: affected with glaucoma; open circles and squares: unaffected phenotype; wt=wild-type allele, m=mutated allele. B: Chromatograms showing homozygous wild-type LTBP2 genotype c.1484G (top) and heterozygous mutated genotype c.1484G>A (bottom). C: Fundus image of the proband’s left eye. Diffuse optic disc atrophy, enlarged cup-to-disc ratio with notching of the neuroretinal rim in the inferior pole of the disc, and severe nerve fiber layer loss especially in inferior area are evident.