Table 1. Clinical characteristics of affected individuals manifesting symptoms of primary congenital glaucoma.
| Family ID | Individual ID | Sex | Age at exam (years) | IOP (OD/OS) | CD ratio (OD/OS) | VA (OD/OS) | Corneal diameter | Other findings |
|---|---|---|---|---|---|---|---|---|
| PKGL001 | 6 | F | 45 | 52/44 | NV/NV | NPL/PL | Increased | SD, CE, CH |
| PKGL014 | 9 | M | 4 | *16/16* | 0.6/0.4 | PL/PL | Increased | B/L Bu, B/L MF |
| PKGL014 | 10 | M | 7 | *8/20* | 0.5/0.7 | PL/CF | 13 mm | B/L Mc, B/L Ny |
| PKGL032 | 11 | F | 2 | 40/32 | 0.7/0.4 | PL/HM | Increased | B/L Bu, CO, B/L Ny |
| PKGL032 | 12 | F | 4 | NA | NV/NV | PL/PL | Increased | B/L Bu, B/L CO |
| PKGL040 | 7 | M | 12 | 26/20* | NV/NV | HM/HM | B/L>14 mm | Bu, B/L CO, Vas, B/L Ny |
| PKGL040 | 8 | F | 16 | 36/36 | 1.0/NV | 6/60/6/18 | Increased | Bu, Rt Pp, Lt PE, CO |
| PKGL046 | 10 | M | 14 | NA | NA | NPL/NPL | NA | CO |
| PKGL046 | 11 | F | 10 | NA | NA | NA | NA | Bu |
| PKGL047 | 8 | F | 2 | 44/30 | 0.8/NV | PL/PL | Increased | B/L Bu, B/L Mc |
| PKGL047 | 9 | F | 5 | NA | 0.7/0.5 | PL/PL | 13 mm | B/L Bu, B/L Mc |
| PKGL051 | 8 | M | 2 | 30/26 | 0.8/0.6 | PL/PL | Increased | B/L Bu, B/L CO |
| PKGL065 | 12 | M | 3 | NA/38 | NA | PL/PL | Increased | B/L Bu, Mc |
| PKGL065 | 11 | M | 10 | 25/28 | 0.8/0.9 | NPL/PL | Increased | B/L Bu |
| PKGL066 | 14 | F | 3 | 22/20* | NV/NV | PL/PL | 13.0/14.0 mm | B/L Bu, B/L CO |
| PKGL068 | 11 | F | 10 | 28/28 | 1.0/1.0 | 4/36/4/12 | Increased | B/L Bu, B/L CO |
| PKGL068 | 12 | F | 5 | Increased | NV/NV | NPL/NPL | Increased | B/L Bu, B/L CH, Php |
| PKGL071 | 12 | M | 13 | *19/22 | 0.9/0.9 | CF/CF | Increased | B/L Bu, B/L Ny |
| PKGL071 | 13 | M | 2 | *16/12 | 0.9/0.3 | NA | Increased | Rt Mc, Rt CO, B/L MF |
| PKGL072 | 11 | F | 14 | 38/NA | NV/NV | HM/NPL | Increased | Rt Bu, Lt PE, Rt Ny, B/L Trab |
| PKGL072 | 12 | F | 2 | *18/25 | 0.3/0.9 | CF/CF | Increased | B/L Bu, B/L Trab, Lt CO |
| PKGL072 | 9 | M | 5 | *18/40 | NV/NV | CF/CF | Increased | B/L Bu, B/L Ny, B/L Trab, Lt CH |
| PKGL073 | 12 | M | 12 | 53/NA | 0.7/NV | 6/60/NPL | Increased | Rt. Mc, Rt. CH, Lt PE |
| PKGL073 | 9 | M | 4 | *18/18* | NV/NV | CF/CF | Increased | B/L HS, B/L Bu, B/L CH |
| PKGL073 | 10 | F | 4 | NA | 0.3/NV | NA | Increased | B/L Bu, B/L CH |
| PKGL077 | 10 | F | 12 | NA | NA | PL/PL | NA | Bu, CO |
| PKGL079 | 11 | F | 10 | NA | NA | NPL/NPL | NA | CO |
| PKGL082 | 8 | M | 4 | NA | NA | NA | NA | Bu, CO |
| Control 01 | F | 28 | 15/17 | 0.3/0.3 | 6/6/6/6 | 11.5 mm | ||
| Control 02 | F | 28 | 17/17 | 0.3/0.4 | 6/6/6/6 | 11.5 mm |
Abbreviations: B/L, bilateral; Bu, buphthalmos; CD Ratio, cup to disc ratio; CE, corneal edema; CF, counting fingers; CH, corneal haze; CO, corneal opacity; HM, hand movement; HS, Haab’s striae; IOP, intraocular pressure; Lt, left; Mc, megalocornea; MF, myopic fundus; NA, not available; NPL, no light perception; NV, no view; Ny, nystagmus; OD, oculus dexter; OS, oculus sinister; PL, light perception; PE, phthisical eye; Php, photophobia; Pp, pseudophakia; Rt, right; SD, spheroidal degeneration; Trab, trabeculectomy; VA, visual acuity; Vas, vascularization.
An asterisk indicates IOP is controlled through surgery and medical treatment.