Table 2 of
Zhang, Mol Vis 2018; 24:471-477. Table 2 of
Zhang, Mol Vis 2018; 24:471-477.
Table 2. Clinical manifestation of 13 patients with gene mutations in this study.
| ID | Gender | Family History | Age of arrival (years) | BCVA (OD/OS) | Type of Lens Opacity | Other ocular defects | Gene Mutation | PolyPhen2 | MutationTaster | NetGene2 | ExAC | Cosegregation | 100 controls | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WCC2 | Female | Yes | 26 | 0.1/LP | nuclear | - | GJA8 c.130G>A, p.V44M | PD | DC | / | - | Y | ND | [5] |
| WCC11 | Male | No | 0.5 | unable to cooperate | nuclear | - | GJA8 c.130G>A, p.V44M | PD | DC | / | - | Y | ND | [5] |
| WCC7 | Female | Yes | 9 | 0.7/0.5 | zonular | - | GJA3 c.130G>A, p.V44M | PD | DC | / | - | Y | ND | [15] |
| WCC5 | Male | Yes | 25 | NA | posterior subcapsular | - | CHMP4B c.170A>G, p.H57R | PD | DC | / | - | NA | ND | this study |
| WCC9 | Male | No | 22 | 0.5/0.6 | NA | - | FOXE3 c.179_181del, p.60_61del | / | DC | / | - | NA | ND | this study |
| WCC3 | Female | Yes | 39 | NA | mixed (cortical+nuclear) | - | CRYBA1 c.215+1G>A | / | / | Donor site abolished | - | Y | ND | [16] |
| WCC17 | Female | Yes | 25 | NA | cortical punctate | - | CRYBB2 c.C463T, p.Q155X | / | / | / | - | Y | ND | [17] |
| WCC10 | Male | Yes | 3 | unable to cooperate | NA | exotropia | CRYAA c.34C>T, p.R12C | PD | DC | / | - | Y | ND | [18] |
| WCC12 | Male | Yes | 2 | unable to cooperate | NA | - | CRYAA c.61C>T, p.R21W | PD | DC | / | - | Y | ND | [19] |
| WCC19 | Female | Yes | 3 | unable to cooperate | posterior subcapsular | nystagmus | CRYAA c.G347A, p.R116H | PD | DC | / | - | Y | ND | [20] |
| WCC13 | Male | Yes | 14 | 0.9/1.5 | NA | - | PITX3 c.656_657insGCCCTGCAGGGCCTGGG, p.G219fs | / | / | / | - | Y | ND | [21] |
| WCC16 | Male | Yes | 28 | NA | nuclear | - | MIP c.489dupC, p.V164fs | / | / | / | - | Y | ND | this study |
| WCC18 | Male | Yes | 38 | 0.6/0.6 | zonular | - | HSF4 c.C1475T, p.P492L | PD | Polymorphism | / | 8.63E-05 | NA | ND | this study |