Table 2 of Tanwar, Mol Vis 2009; 15:2926-2937. Table 2 of Tanwar, Mol Vis 2009; 15:2926-2937.
Table 2. Clinical manifestations of PCG patients.
Pt. ID |
Age
of onset of disease |
Sex |
Age
at presentation/ sampling |
Corneal
Diameter (mm) OS/OD and clarity at diagnosis |
Buphthalmos |
IOP
OS/OD (mmHg) At presentation |
Haabs’ striae |
Last
Cup Disc ratio OS/OD |
Photo- phobia |
Mutations |
Treatments |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P51 | By birth | F | 36 months | 11x11.5/13x13; OU mild edema | OU;OD>OS | 22/28 | no | 0.8:1/0.9:1 | Yes | — | Medical and OU Trab/Trab+MMC; OU cataract surgery |
| P52 | By Birth | F | 2 months | 12.5x13/12.5x13; OS mild edema | OU | 20/20 | no | Hazy media/0.5:1 | Yes | — | Medical and OU Trab/Trab+MMC |
| P53 | By birth | F | 4 months | 11.5x12/12x12; OU mild edema | OU; OD>OS | 40/23 | no | Hazy media | Yes | — | Medical and OU Trab/Trab+MMC |
| P54 | By birth | M | 9 months | 15x14.5/15x14.5; no edema | OU | 26/26 | no | No glow | No | — | Medical and OUTrab/Trab+MMC |
| P55 | By birth | M | 8 months | Phthisic eye/12x12; OU severe edema | OD; OS Phthisic eye | NA/37 | no | NA/0.9:1 | No | p.I94X (H) | Medical and OD Trab/Trab+MMC |
| P56 | By birth | F | 12 months | 14.5x14.5/14x14; OU severe edema | OU; OS>OD | 30/28 | OU +ve | Hazy media | No | p.Q340H (H) + p.R390H (H) | Medical and OU Trab/Trab+MMC |
| P57 | By birth | M | 3 months | 13x13/13.5x13.5; No edema | OU; OD>OS | 28/30 | no | 0.7:1/0.7:1 | No | — | Medical and OU Trab/Trab+MMC |
| P58 | By birth | M | 15 months | 14x14/12.5x12.5; No edema | OU; OS>OD | 20/16 | no | total cupping/ 0.5:1 | No | — | Medical and OU Trab/Trab+MMC |
| P59 | By birth | F | 10 months | 14x14.5/13.5x14; OS edema | OU; OS>OD | 31/31 | OS +ve | Not available | No | — | Medical and OU Trab/Trab+MMC |
| P60 | 7 months | F | 41 months | 14x14/13x13.5; no edema | OU; OS>OD | 24/18 | no | 0.4:1/0.6:1 | Yes | — | Medical and OU Trab/Trab+MMC |
| P61 | By birth | M | 4 months | 15.5x15/14x14; OU mild edema | OU; OS>OD | 30/34 | OU +ve | Not visible/0.9:1 | No | p.H279D (h) | Medical and OU Trab/Trab+MMC |
| P62 | By birth | M | 8 months | 11x11.5/10x11.5; OD edema | OU; OS>OD | 22/16 | no | 0.6:1/0.6:1 | Yes | — | Medical and OU Trab/Trab+MMC |
| P63 | 3 months | M | 12 months | 12x12/11x12.5; No edema | OU; OS>OD | 22/23 | no | 0.4:1/0.4:1 | No | — | Medical and OU Trab/Trab+MMC |
| P64 | By birth | M | 1 month | 12x12/11.5x11.5; OD severe edema | OU; OS>OD | 28/24 | no | Not visible/0.7:1 | Yes | p.R390C (h) | Medical and OU Trab/Trab+MMC |
| P65 | By birth | M | 6 months | 13x13/12.5x13; OU edema | OU; OS>OD | 25/26 | no | 0.7:1/0.7:1 | No | p.E229K (h) | Medical and OU Trab/Trab+MMC |
| P66 | 3 months | M | 13 months | 12.5x12/12.5x12; No edema | OU | 22/24 | no | 0.4:1/0.4:1 | no | — | Medical and OU Trab/Trab+MMC |
| P67 | 11 months | M | 132 months | 12x13/13x14; OU mild edema | OU; OD>OS | 21/24 | no | Not visible | Yes | — | Medical and OU Trab/Trab+MMC |
| P68 | By birth | M | 6 months | 13x13/13.5x14; OU severe edema | OU; OD>OS | 26/28 | no | 0.8:1/0.8:1 | no | p.R368H (H) | Medical and OU Trab/Trab+MMC |
| P69 | By birth | M | 4 months | 13x13/12x13; No edema | OU; OS>OD | 24/26 | no | 0.5:1/0.6:1 | no | — | Medical and OU Trab/Trab+MMC |
| P70 | By birth | M | 45 days | 15x15/15x14.5; OU severe edema | OU/; OS>OD | 30/40 | Not visible | Not visible | no | p.R355X (H) | Medical and OU Trab/Trab+MMC |
| P71 | 13 months | M | 18 months | 12x2/12x12; No edema | OU | 22/23 | no | 0.4:1/0.4:1 | Yes | — | Medical and OU Trab/Trab+MMC |
| P72 | By birth | M | 45 days | 12x12/12x11.5; OU mild edema | OU; OS>OD | 20/24 | no | No glow | Yes | — | Medical and OU Trab/Trab+MMC |
| P73 | By month | M | 2 months | 12.5x13/11x12; OU mild edema | OU; OS>OD | 22/22 | no | Hazy media | no | — | Medical and OU Trab/Trab+MMC |