Table 1. Ocular phenotype: X-linked megalocornea patients.
| Family A | Family B | Family C | Family D | Family E | Family F | Family G | Family H | Family I | Family J | Family K | ||||||||||||
| V:4 | IV:5 | III:1 | II:1 | II:1 | II:1 | II:2 | II:1 | II:1 | II:1 | III:4 | ||||||||||||
| R | L | R | L | R | L | R | L | R | L | R | L | R | L | R | L | R | L | R | L | R | L | |
| Maternal ethnicity | White | White | White | White | White | White | White | Asian | White | White | White | |||||||||||
| Age at last follow up (years) | 44 | 2 | 18 | 15 | 58 | 1 | 2 | 0.5 | 2 | 72 | 8 | |||||||||||
| Refraction (before surgery) | −9.50/−1.50×70 | −7.25/−1.00×180 | +1,5/−0,75 cyl 15 | +1,5/−0,25 cyl 149 | −4.75/−1.0×180 | −3.5/−2.25×170 | −7.5/−3.0×20 | −5.5/−3.75×5 | −2.5/−1.75×25 | −3.5/−2.75 | +2.5/−3.00×40 | +2.75/−3.75×41 | +3.0/−2.25×15 | +2.5/−2.0×5 | −1.00 | −1.00 | +1.00/−0.5×20 | +1.5/−0.5×160 | NA | +0.25/− | 0/+0.25×90 | |
| Cataract surgery (years) | 43 | 43 | − | − | − | − | − | − | 56 | 42 | − | − | − | − | − | − | − | − | 60 | 60 | − | − |
| Retinal detachment (age) | − | − | − | − | − | − | − | − | +(46) | − | − | − | − | − | − | − | − | +(62) | − | − | − | |
| Visual acuity (LogMAR) | 6/6 | 6/9 | 6/12 | 6/12 | 6/5 | 6/5 | 0.3 | 0.1 | 6/5 | 6/60 | >6/76 | >6/76 | >0.8 | >0.8 | NA | NA | NA | NA | 6/6 | 6/6 | 0.02 | 0.02 |
| Iris transillumination | + | + | − | − | − | − | − | − | + | + | + | + | − | − | − | − | NA | NA | + | + | − | − |
| Arcus juvenilis | + | + | − | − | − | − | − | − | + | + | − | − | − | − | − | − | − | − | + | + | − | − |
| Shagreen | + | + | − | − | − | − | − | − | + | + | − | − | − | − | − | − | − | − | + | + | − | − |
| Anterior chamber (AC) depth (mm) | 6.30 | 6.30 | NA | NA | 5.08 | 4.82 | 5.72 | 5.78 | NA | 6.39 | 4.30 | 4.40 | 4.30 | 4.50 | NA | NA | NA | NA | NA | 6.50 | 5.15 | 4.84 |
| HWTW (mm) | 15 | 15 | 16 | 15.5 | 16 | 16 | 15 | 15 | 15.9 | 15.9 | 15 | 15 | 15 | 15 | 13 | 13 | 14.75 | 14.75 | 14.9 | 14.9 | 14 | 13.5 |
| Axial length (AL) (mm) | 27.9 | 27.9 | 23.8 | 23.6 | 26.1 | 25.4 | 27.31 | 26.6 | 28.69 | 27.91 | 21.0 | 22.5 | 22.4 | 21.8 | NA | NA | 21.75 | 21.8 | 27.95 | 27.36 | 22.91 | 23.14 |
| Central corneal thickness (µm) | 440 | 427 | 446 | NA | 430 | 470 | 403 | 406 | 470 | 475 | 406 | 406 | NA | NA | NA | NA | 419 | 409 | NA | 408 | N/A | N/A |
| Disc (cup:disc) | 0.3 | 0.3 | 0.1 | 0.1 | 0.1 | 0.1 | 0.1 | 0.1 | 0.3 | 0.3 | 0.1 | 0.1 | 0.1 | 0.1 | 0.1 | 0.1 | 0.1 | 0.1 | 0.4 | 0.3 | 0.3 | 0.3 |
| AC/AL ratio | 0.23 | 0.23 | NA | NA | 0.19 | 0.19 | 0.21 | 0.22 | NA | 0.23 | 0.20 | 0.20 | 0.19 | 0.21 | NA | NA | NA | NA | NA | 0.24 | 0.22 | 0.21 |
| IOP (mmHg) | 10 | 11 | 11 | 10 | 12 | 12 | 12 | 12 | 18 | 17 | 10 | 10 | 8 | 9 | 12 | 12 | 12 | 13 | 16 | 16 | 10 | 10 |
The following abbreviations and symbols have been used: NA = not available; HWTW = cornea horizontal diameter (white to white); IOP = intraocular pressure.