Table 1. FOXC1 gene variations identified in dominant glaucoma cases and associated clinical features.
| Proband or family member | 1 Nucleotide change | Amino acid change | Phenotype/laterality | Age at diagnosis (years)/sex | IOP (mmHg) at diagnosis (OD/OS) | C/D (OD/OI) | 2 Treatment |
|---|---|---|---|---|---|---|---|
| PCG68 (III:1) | 3 c.141C>G | 3 p.Y47X | LCG/B | 7/F | (24/20) | NA | 1 |
| PCG68 (II:4) | c.141C>G | p.Y47X | JOAG/B | 30/F | 30/25 | 0.8/0.8 | 5+Surgery |
| 559–10 (II:1) | c.316C>T | p.Q106X | PCG/B | 3/F | (25/25.9) | NA | Surgery |
| PCG73 (III:1) | 3 c.377T>G | 3 p.I126S | PCG/B | 1/F | (14/15) | (0.6–0.7/0.8–0.9) | 1+Surgery |
| PCG73 (II:2) | c.377T>G | p.I126S | JOAG/NA | 12/F | NA | NA | NA |
| PCG73 (II:4) | c.377T>G | p.I126S | ARA/B | NA/M | NA | NA | NA |
| 556–10 (II:2) | 3 c.1337_1342dup | 3 p.G447_G448insDG | AOG/B | 66/F | (21/20) | NA | 1 |
| 556–10 (II:3) | c.1337_1342dup | p.G447_G448insDG | AOG/B | >50/F | NA | NA | NA |
1The variants were present in the heterozygous state;
2Number of drugs and/or surgery;
3Novel variants;
AOG/ARA/JOAG/LCG/PCG: Adult-onset glaucoma/Axenfeld-Rieger anomaly/juvenile-onset glaucoma/late-onset primary congenital glaucoma/primary congenital glaucoma; B: bilateral; C/D: cup/disk ratio; NA: Not available; OD/OS: right eye/left eye. Mutations were named according to RefSeq: NM_001453.2 and using directions from Mutalyzer (https://humgenprojects.lumc.nl/trac/mutalyzer).