Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report

Figure 1 Ocular assessments of the proband. A: Fundus photo of the right and left eye; B: Ocular coherence tomography-retinal nerve fiber layer of both eyes (Key: S: Superior; T: Temporal; N: Nasal; I: Inferior); C: Right and left nasal step visual field defects consistent with glaucomatous damage.

Figure 2 Coinheritance of OLFM2 and SIX6 variants might be associated with juvenile-onset primary open-angle glaucoma. A: The proband coinherited OLFM2 and SIX6 variants, indicated with a black arrow. The square represents male, circle represents female, and affected individual was shown by a filled symbol; B: The Sanger sequencing DNA chromatograms of OLFM2 and SIX6 for the proband and unaffected family members. The mutated nucleotides are marked with red arrows.

Figure 3 Evolutionary conservation of amino acids for the p. (Arg94His) and p.(Ile59Met) mutations. A: Schematics of the functional domains of the Olfm2 and Six6 proteins and locations of the corresponding mutations; B and C: The mutation and wild type residues for OLFM2 p.Arg94 (B) and SIX6 p.Ile59 (C) were highlighted with a red box. Noelin-1: Neurogenesis glycoprotein domain; OLF: Olfactomedin-like domain; SIX1_SD: Transcriptional regulator, SIX1, N-terminal SD domain; homeodomain: DNA binding domain, involved in the transcriptional regulation of key eukaryotic developmental processes.