Table 1 of
Sun, Mol Vis 2017; 23:977-986. Table 1 of
Sun, Mol Vis 2017; 23:977-986.
Table 1. Clinical features and mutations of patients.
| Patient | Eye | BCVA | Microcornea (corneal diameter) | Lens | Coloboma | Other ocular abnormity | Mutation | Genetic testing method |
|---|---|---|---|---|---|---|---|---|
| Family A I:2 | OD | NA | Yes | Cataract | No | No | CRYAA p.(Arg21Trp) | Sanger |
| OS | ||||||||
| Family A II:2 | OD | 0.1+ | Yes (9mm) | Aphakia | optic disc and macular coloboma | nystagmus and blepharoptosis | CRYAA p.(Arg21Trp) | Sanger |
| OS | 0.08 | Cataract | optic disc coloboma | |||||
| Family A II:4 | OD | NA | Yes | Cataract | No | No | CRYAA p.(Arg21Trp) | Sanger |
| OS | Aphakia | |||||||
| Family A III:2 | OD | 0.02 | Yes (9mm) | Aphakia | No | nystagmus and blepharoptosis | CRYAA p.(Arg21Trp) | NGS |
| OS | 0.08 | |||||||
| Family B II:2 | OD | HM | Yes (8.5mm) | Cataract | posterior segment coloboma | high intraocular pressure of 29 mmHg | CRYBB2 p.(Gly149Val) | Sanger |
| OS | 0.03 | high intraocular pressure of 53 mmHg | ||||||
| Family B III:1 | OD | 0.1 | Yes(9.5mm) | Cataract | posterior segment coloboma | No | CRYBB2 p.(Gly149Val) | NGS |
| OS | HM | Aphakia | No | |||||
| Family C I:1 | OD | NA | Yes | Aphakia | No | corneal degeneration and retinal detachment | CRYGC p.(Tyr144Ter) | Sanger |
| OS | No | |||||||
| Family C II:1 | OD | NA | Yes | Aphakia | No | high intraocular pressure of 34 mmHg | CRYGC p.(Tyr144Ter) | NGS |
| OS | high intraocular pressure of 39 mmHg | |||||||
| Family D I:1 | OD | 0.2 | Yes | psuedophakia | No | No | CRYGC p.(Met44CysfsTer59) | Sanger |
| OS | NLP | retinal detachment | ||||||
| Family D II:1 | OD | 0.15 | Yes (6.5 mm) | psuedophakia | No | No | CRYGC p.(Met44CysfsTer59) | NGS |
| OS | FC | Yes (7 mm) | ||||||
| Family D II:5 | OD | 0.3 | Yes | psuedophakia | No | No | CRYGC p.(Met44CysfsTer59) | Sanger |
| OS | 0.1 | |||||||
| Simplex case 1 | OD | 0.1+ | No | Cataract | inferior iris and chorioid coloboma | No | CRYBB1 p.(Arg230Cys) | NGS |
| OS | 0.1 | Normal | ||||||
| Simplex case 2 | OD | HM | Yes | Cataract | optic disc coloboma | No | CRYGC p.(Arg48His) | NGS |
| OS | 0.4 | No | Normal | No | ||||