Phenotype correlation with each genotype in both groups
| Neonatal onset (n=14; 28 eyes) | Infantile onset (n=29; 58 eyes) | ||||||
| CYP1B1 mutations | No mutation | CYP1B1 mutations | No mutation | ||||
| c.1169 G>A (p.R390H) c.1358 A>G (p.N453S) | c.1169 G>A (p.R390H) | c.1158T>A (p.Y386 Stop) | c.1169 G>A (p.R 390H) c.1358 A>G (p.N453S) | c.1294C>G (p.L432V) | |||
| No. of eyes and patients | 8 eyes of 4 patients | 2 eyes of 1 patient | 2 eyes of 1 patient | 16 eyes of 8 patients | 6 eyes of 3 patients | 4 eyes of 2 patients | 48 eyes of 24 patients |
| Age at presentation | 12.5±7.5 days | 14 days | 11 days | 6.7±3.3 days | 13.6±9.6 months | 9.0±4.2 months | 12.1±9.4 months |
| Presenting IOP (mm Hg) | 20.2±2.7 | 22.0 | 25.0 | 19.7±5.6 | 25±7.9 | 24±5.1 | 23.8±9.5 |
| Corneal clarity | 2.5±1.1 | 3 | 1 | 1.9±1.4 | 2.0±0.9 | 1.3±0.5 | 0.7±0.8 |
| Outcome | Poor 4/8 (50%) Fair 4/8 (50%) | Poor 2/2 | Fair 2/2 | Poor 5/16 (31.2%) Fair 7/16 (43.7%) Good 4/16 (25%) | Poor 3/6 (50%) Fair 3/6 (50%) | Good 4/4 (100%) | Poor 2/48 (4.1%) Fair 10/48 (20%) Good 36/48 (75%) |
| Overall outcome in neonatal vs infantile PCG with and without mutations |
NO-PCG with mutations
(n=12) |
NO-PCG no mutations
(n=16) |
IO-PCG with mutations
(n=10) |
IO-PCG
no mutations (n=48) | |||
| Poor 6/12 (50%) Fair 6/12 (50%) Good 0 | Poor 5/16 (31.2%) Fair 7/16 (43.7%) Good 4/16 (25%) | Poor 3/10 (30 %) Fair 3/10 (30 %) Good 4/10 (40%) | Poor 2/48 (4.1%) Fair 10/48 (20%) Good 36/48 (75%) | ||||
| Poor outcome | Eyes in patients with CYP1B1 mutations (n=22) | Eyes in patients without CYP1B1 mutations (n=64) | P value | ||||
| 9/22 (41%) | 7/64 (10.9%) | 0.004 | |||||
IO, infantile-onset; IOP, intraocular pressure; NO, neonatal-onset; PCG, primary congenital glaucoma.