Table 2.
Findings at Diagnosis (OD/OS) | Surgeries | Findings at Last Visit (OD/OS) | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient IDa | Diagnosis | Age (yrs) | IOP (mm Hg) | Anterior Segment (OU) | CD, horizontal (mm) | C/D-Ratio | OD | OS | Age (yrs) | Treatment successb | VA (Snellen decimal) | C/D-Ratio | Complications |
1 [II:1] | PCG | 0 | NA | NA | NA | NA | 1 × fist | 2 × fist | 5.8 | Failure/qualified 1 | LP/LP | NA/1.0 | Cat, RD/cat |
2 [II:2] | PCG | NA | NA | NA | NA | NA | 1 × trabeculotomy | 3 × fist, 2 × cyclo | 31.0 | Complete/complete | 0.03c/0.1c | NA/1.0 | None |
2 [II:3] | PCG | NA | NA | NA | NA | NA | NA | NA | 27.0 | Failure/failure | NLP/NLP | NA | Phthisis bulbi/Phthisis bulbi |
3 [II:1] | PCG | 0 | 38/34 | CE ++ | 12/12 | NA | 1 × fist, 1 × trabeculotomy, 4 × cyclo | 2 × fist, 1 × trabeculotomy, 3 × cyclo | 11.6 | Complete 4/qualified 3 | 0.2c/0.4c | 0.4/0.5 | Cat/cat |
3 [II:2] | PCG | 0 | 36/49 | CE ++ | 12/12 | NA | 1 × fist, 1 × trabeculotomy, 6 × cyclo | 1 × trabeculotomy, 4 × cyclo | 10.2 | Qualified 2/qualified 2 | HM/0.4c | 0.8/0.3 | Cat, RD/none |
4 [II:1] | PCG | 0 | 26 (EUA) | CE +++ | 12/12.5 | 0.2 | 2 × fist, 1 × trabeculotomy | 1 × fist, 1 × trabeculotomy | 3.9 | Qualified 1/qualified 4 | 0.3c/0.6 | 0.4/0.3 | None |
5 [II:1] | PCG, facial dysmorphism, ASD II | 0 | 21/22 | Buphthalmos, CE +++ | 12/11.5 | 0.2/0.2 | 1 × fist, 1 × trabeculotomy | 1 × trabeculotomy, 1 × cyclo | 0.7 | Qualified 4/qualified 4 | NA | 0.3/0.3 | None |
6 [I:1] | CG associated with ocular ARS features | 10 | NA | Iris hypoplasia, irido-corneal adhesions | NA | NA | 2 × trabeculotomy | 1 × trabeculotomy | 51.9 | Qualified 4/qualified 4 | 1.25/1.25 | 0.3/0.1 | None |
6 [II:1] | CG-suspect associated with ocular ARS features | 5.7 | 29/23 | Iris hypoplasia, cat (OD) | NA | 0.3 | 0 | 0 | 9.6 | Qualified 1/qualified 1 | 0.8c/1.25 | 0.3/0.3 | None |
7 [II:1] | JOAG, facial dysmorphism, developmental delay | 14.1 | 20/19 (EUA, UT) | Subepithelial haze + | 11.5/11 | 1/1 | 1 × fist, 1 × trabeculotomy, 1 × cyclo | 1 × fist, 1 × trabeculotomy, 1 × cyclo | 19.7 | Failure/qualified 4 | NLP/LP | 1.0/1.0 | Cat/cat |
8 [II:1] | PCG | 0.5 | 24/31 | Peripheral iris hypoplasia, CE +, Haab's striae +/- | 14/13 | 0.4/0.4 | 1 × trabeculotomy | 1 × trabeculotomy | 1.1 | Complete 4/complete 4 | 0.2 | 0.1/0.1 | None |
9 [II:1] | PCG | 0.2 | 46/40 | CE + | 12/12 | 0.7/0.6 | 1 × fist, 1 × trabeculotomy | 1 × trabeculotomy | 3.9 | Complete 2/complete 3 | 0.4/0.4 | 0.1/0.1 | None |
10 [II:1] | PCG | NA | NA | NA | NA | NA | 7 × cyclo | 7 × cyclo | 10.9 | Qualified 4/qualified 4 | NA | 0.2/NA | None |
11 [II:1] | PCG-late onset | 3.6 | 25/39 | CE +, Haab's striae | 14.5/15.3 | 0.4/1 | 1 × trabeculotomy | 1 × trabeculotomy | 7.1 | Complete 4/complete 4 | 1/0.02c | 0.3/0.9 | None |
11 [II:2] | PCG | 0.4 | 23/36 | CE +, Haab's striae | 12/13 | 0.4/0.6 | 1 × trabeculotomy | 1 × trabeculotomy | 3.1 | Complete 4/complete 4 | 0.5/0.6 | 0.1/0.1 | None |
12 [II:1] | PCG | 0.3 | 36/37 | CE ++, Haab's striae | 14/13.5 | 0.5/0.5 | 1 × fist, 1 × trabeculotomy | 1 × fist, 1 × trabeculotomy | 1.2 | Qualified 4/qualified 2 | 0.1/0.16 | 0.6/0.6 | None |
13 [II:1] | CG associated with Barkan membrane | 14.9 | 25/35 | Barkan membrane | NA | 0.6/1 | 0 | 0 | 24.0 | NA | 1/CF | 0.6/1.0 | None |
14 [II:1] | PCG | 0.3 | 20/18(EUA, UT) | Buphthalmos, CE +++ | 14.4/14 | 0.6/0.6 | 2 × fist, 1 × trabeculotomy, 9 × cyclo | 2 × fist, 1 × trabeculotomy, 9 × cyclo | 6.3 | Qualified 2/qualified 4 | NA | LP/0.1 | Cat/cat |
ARS, Axenfeld-Rieger syndrome; ASD, atrial septal defect; Cat, cataract; CD, corneal diameter; C/D, cup-to-disc; CF, counting fingers; CG, childhood glaucoma; CE, corneal edema; cyclo, cyclodestructive surgery; EUA, examination under anesthesia; fist, fistulating surgery; HM, hand movements; IOP, intraocular pressure; LP, light perception; NA, not available; NLP, no light perception; OD, oculus dexter; OS, oculus sinister; OU, oculus uterque; PCG, primary congenital glaucoma; RD, retinal detachment; UT, under topical treatment; VA, visual acuity; yrs, years
First numeral stands for family number. Roman numeral represents the generational affiliation of the index patient.
Complete success: no medication and at least light perception, IOP >5/<22 mm Hg (1), IOP 6–18 mm Hg (2), IOP 6–16 mm Hg (3), IOP 6–14 mm Hg (4). Qualified success: medication and at least light perception, IOP >5/<22 mm Hg (1), IOP 6–18 mm Hg (2), IOP 6–16 mm Hg (3), IOP 6–14 mm Hg (4). Failure: IOP ≤5 mm Hg/>21 mm Hg or loss of light perception.
Abnormal value for respective age.