Table 1 of El-Gayar, Mol Vis 2009; 15:1325-1331.
Proband |
Age of onset |
Age at Dx |
Current age |
Corneal Diameter V,H [mm] |
Corneal Haze OD/OS |
IOP [mmHg] OD/OS at Dx | IOP [mmHg] OD/OS Current | cIOP [mmHg] OD/OS | Gonioscopy OD/OS [Shaffer] or AC depth | Axial Length [mm] OD/OS |
Refraction [SphericEquivalent] OD/OS | Cup-Disc Ratio OD/OS | Visual Acuity [Decimal] OD/OS | Treatment |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 | ||||||||||||||
proband | at birth | at birth | 10 y | 12,12/12,12 | mild/ mild | ND | 19/23 | 18/22 | 1–2/1–2 | 22.74/ 25.17 | −1.5/-9.75 | 0.4/0.8 | 1.0/0.2 | OU Trab (7d); LE ALT+Trab (3y); OU Medications |
Family 2 | ||||||||||||||
proband | at birth | “late” | 24 y | 14,14/13,13 | clear/ clear | ND | 45/45 | 46/43 | 3.5 h open, PAS/open | 25.23/ 24.04 | −3.75/.4.25 | 1.0/0.9 | HM/0.1 | OS Medications OS |
Affected sibling | at birth | 7 y | 13 y | 11,12/12,15 | clear/ severe | ND | 18/ digitally soft | 18 | 2/deep AC | ND/ ND | −1.37/NA | 0.7/NA | 0.1/NLP | OD Trab+MMC (7y); OS no Rx.; OD Medications |
Affected sibling | at birth | 5 y | 11 y | 13,15/ND | mild/NA | ND | 21/NA | 28 | 1/NA | 22.53/ NA | +0.5/NA | 0.8/ND | 0.5/NA | OD Trab (5y); OS enucleation (9y); OD Medications |
Family 3 | ||||||||||||||
proband | at birth | 5 d | 11 y | 12.5,12.5 / 12,12 | mild / clear | ND | 21 /13 | 10/08 | normal AC/normal AC | 23.05/ 20.92 | 0.0/+0.5 | 0.3/0.4 | 0.05/0.5 | OD Trab (2w) (´3); OS Trab (2w) (´2); OU Medications |
Family 4 | ||||||||||||||
proband | unclear | unclear | 23 y | 12.5,12.5/11.5,12.0 | clear/ clear | >50/>50 | 17/15 | 19/16 | 3/3 | ND/ ND | −3.37/-2.87 | 0.8/0.9 | 0.3/0.6 | OU Trab (6y); OU Medications |
Affected sibling | at birth | at birth | 3 y | 12.5,13/12.5,12.5; at 14 m: 11,11.5/11,11.5 | clear/ clear | >50/>50 | 12/18 | 7/14 | ND/ND | 21.09/ 20.34, at 14 m: 19.92/ 19.67 | −1.75/-2.0 | 0.0/0.0 | 0.5/0.5 | OU Trab+Trab (3y); No medications |
Family 5 | ||||||||||||||
proband | at birth | at birth | 3 y | 11,12/ND; at birth: 10,10/12,12 | clear / NA | 38 / 36 | 22 / NA | 18 | normal AC/NA | 19.7/ NA, at birth: 18.47/ 19.27 | −5.75/NA | 0.1/NA | sc 0.05/NLP | OD Trab + Trab (3w); OS Trab + lensectomy+anterior vitrectomy (3w); No medications |
Family 6 | ||||||||||||||
proband | at birth | at birth | 3 y | 11.5/12 | >30/30 | 30/25 | 39/18 | 0.4/0.5 | 0.05/0.15 (low coop.) | OU Trab; No medications | ||||
Affected sibling | at birth | at birth | 6 m | 11.5,11.0/10,10 | clear / clear | ND | normal AC/normal AC | 18.64/ 18.63 | −0.62/-1.37 | 0.5/0.9 | follows light/follows light | Medications only; Awaiting Sx | ||
Family 7 | ||||||||||||||
proband | at birth | at birth | 20 y | 8,9/9,11 | severe/severe, at birth: BE “white cornea” | ND | NA/NA | NA/NA | NA/NA | NA/NA | NA/NA | NLP/NLP | OU Trab (9d) (x1) (5y); No medications | |
Affected sibling | at birth | at birth | 18 y | -,17/-,17 | severe/severe, at birth: BE “white cornea” | ND | BE digitally hard | NA/NA | >30/ >30 | NA/NA | NA/NA | LP/LP | OU Trab (3–4y); No medications | |
Affected sibling | at birth | at birth | 8 y | -,14.5/-,14.5 | severe/severe, at birth: BE “white cornea” | ND | BE digitally hard | deep AC/deep AC | ≈27/ ≈25 | NA/NA | NA/NA | LP/LP | OU Trab (3–4m); No medications | |
Family 8 | ||||||||||||||
proband | unclear | 12 y | 26 y | 12.5,12.5/12,12 | mild/clear | ND | 45/16 | 39/18 | deep AC/deep AC | 27.88/ 25.57 | −11.9/-1.68 | NA/1.0 | LP/HM | OS Trab (22y); No medications |
Affected sibling | < 1 y | 1 y | 23 y | 14,14/13.5,14.5 | clear / mild | ND | 26/21 | 17/15 | normal AC/normal AC | 29.10/ 22.36 | ≈-6.5/NA | 0.9/NA | 0.075/NLP | OS Trab (1year); No medications |
Affected sibling | at birth | at birth | 18 y | 12.5,12.5/13,13 | severe/severe | ND | digitally soft/ digitally hard | NA/NA | ≈13/ ≈25 | NA/NA | NA/NA | NLP/NLP | OU Trab (20d); | |
Family 9 | ||||||||||||||
proband | 1 m | 1 m | 17 y | 10,10/19,19 | severe/severe | ND | BE digitally soft | NA/NA | ≈21/ ≈29 | NA/NA | NA/NA | NLP/NLP | OS Trab (x7); No medications |