Table 2. Rare FOXC1 and PITX2 gene variations identified in PCG and associated clinical features.
| Proband (family member) | Nucleotide changea | Amino-acid change | Phenotype/laterality | Age at diagnosis (months)/sex | IOP (mm Hg) at diagnosis (OD/OI) | C/D (OD/OS) | Treatmentb |
|---|---|---|---|---|---|---|---|
| PCG-10 | c.-244C>T | − | PCG/B | 9/F | (30/30) | NA | Surgery |
| PCG-12 | c.-244C>T | − | PCG/B | 1.5/M | (22/24) | 0.3/0.7 | Surgery |
| PCG-12 (I:1) | c.-244C>T | − | OH/B | 708/M | 24/24 | 0.5/0.5 | NA |
| PCG-14 | c.-244C>T | − | PCG/B | 1/M | (22/22) | 0.3/0.5 | Surgery |
| PCG-14 (I:1) | c.-244C>T | − | OH/B | 612/M | 22/22 | 0.2/0.2 | NA |
| PCG-30 | c.-244C>T | − | PCG/B | 0/M | (23/28) | NA | Surgery |
| PCG-105 | c.-244C>T | − | PCG/B | 3/F | (30/31.5) | (0.6–0.7/0.7–0.8) | 2+Surgery |
| PCG-96 | c.-429C>G (rs77888940) | − | PCG/B | 2/M | (32/36) | (0.2/0.2) | Surgery |
| PCG-169 | c.-429C>G (rs77888940) | − | PCG/U (OD) | NA/F | NA | NA | 2+ Surgery |
| PCG-54 | c.1134_144del | p.(G380Rfs*144) | PCG/B | 4/M | (35/35) | (0.6/0.7) | Surgery |
| PCG-98 | c.*734A>T (rs35717904) | − | LCG/U (OD) | 60/F | (57/12) | (0.6/0.4) | 1+Surgery |
| PCG-84 (II:2) | c.889C>T (FOXC1) c.*454C>T (rs6533526) (PITX2) | p.(P297S) (FOXC1) | PCG/B | 6/F | 15/18 | NA | Surgery |
| PCG-84 (III:1) | c.889C>T (FOXC1) c.*454C>T (rs6533526) (PITX2) | p.(P297S) (FOXC1) | Normalc | 24d | − | − | NA |
Abbreviations: LCG/PCG, late-onset primary congenital glaucoma/primary congenital glaucoma; B/U, bilateral/unilateral; C/D, cup/disk ratio; NA, not available; OH, ocular hypertension; OD/OS, right eye/left eye.
a
The variants were present in the heterozygous state and were named according to RefSeq NM_001453.2 and NM_00325.5 for FOXC1 and PITX2, respectively.
b
Number of drugs and/or surgery.
c
At the time of the study.
d
Age at the time of the study.