Table 1 of
Liu, Mol Vis 2023; 29:169-179. Table 1 of
Liu, Mol Vis 2023; 29:169-179.
Table 1. Genotypes and clinical features of CEL patients included in this study.
| Patients (ID) | 228 | 294 | 382 | 431 |
|---|---|---|---|---|
| Genotype | c.3452G>A(;) 4370-7_4370-9del(;) 4370-5C>G | c.[2253del]; [2253del] | c.[1251G>A]; [4114T>C] | c.[620G>A]; [4760G>A] |
| Gender, Age (years) | F, 43 | F, 5 | F, 33 | F, 4 |
| Family history | + | Consanguineous marriage | - | - |
| Height (cm)/Weight (Kg) | 167/61 | 105/18 | 170/72 | 108/18.1 |
| Ocular features (OD/OS) | ||||
| Bilateral/Unilateral | Bilateral | Bilateral | Bilateral | Bilateral |
| EL direction | ||||
| OD | Inferotemporal | Inferotemporal | Inferotemporal | Inferonasal |
| OS | Inferonasal | Inferotemporal | Inferotemporal | Inferonasal |
| Refraction* | -24.0Ds/-23.0Ds | -30.0Ds/-31.0Ds | -6.25Ds/-5.25Ds | -20.0Ds/-20.0Ds |
| BCVA | 0.4/0.3 | 0.1/0.05 | 0.7/0.7 | 0.1/0.1 |
| IOP (mmHg) | 12.7/14.3# | 31/31 | 17/18 | 16/12 |
| Average C/D ratio | 0.66/0.53 | 0.96/0.95 | 0.0/0.0 | 0.65/0.62 |
| Average RNFL (μm) | 97/80 | 36/38 | 111/112 | 123/126 |
| Axial Length (mm) | 28.46/28.20 | 23.72/23.82 | 23.02/22.92 | 21.48/21.57 |
| Corneal simK (Diopters) | 45.27/44.37 | 42.80/42.72 | 44.96/44.28 | 43.13/42.85 |
| ACD (mm) | 4.06/3.62 | 2.62/2.31 | 3.42/3.43 | 2.39/2.64 |
| LT (mm) | 4.48/4.74 | 4.78/5.01 | 5.19/5.19 | 5.18/5.27 |
| Corneal diameter (mm) | 12.0/12.2 | 13.3/13.5 | 12.7/12.8 | 13.1/13.4 |
| Cataract | +/- | -/- | +/+ | -/- |
| Ocular Complications | high myopia glaucoma posterior staphyloma thinner RNFL layer of superior retina | megalocornea corneal haze spherophakia closed angle glaucoma optic atrophy | spherophakia retinal degeneration optic disc abnormality | megalocornea spherophakia closed angle |
| Metacarpophalangeal index (right/left) | 7.7/7.7 | 8.2/8.1 | 8.3/8.3 | 7.8/7.9 |
| Diameter of aorta sinus (cm) | 22 | 20 | 26 | 19 |