Table 1 Clinical characteristic of affected patients
From: Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
Patients | II:3 | I:2 | II:5 | III:1 |
|---|---|---|---|---|
Relationships | Proband | Mother | Sister | Daughter |
Age (Years) | 46 | 68 | 37 | 26 |
Gender | Female | Female | Female | Female |
UCVA(LogMAR) | ||||
OD | 0.92 | 1.70 | 1.40 | 0.40 |
OS | 0.82 | 1.70 | 1.40 | 1.0 |
Axial length (OD/OS, mm) | 24.70/24.03 | NA | 26.27/25.39 | 20.17/19.21 |
Corneal diameter (OD/OS, mm) | 9.5/9.5 | 9.5/9.5 | 9.6/9.6 | 9.80/9.8 |
Bilateral/Unilateral | Bilateral | Bilateral | Bilateral | Bilateral |
Microcornea (Y/N) | Y | Y | Y | Y |
Corneal opacity (Y/N) | N | N | N | N |
Cataract (Y/N) | Y | Y | Y | Y |
Type of Cataract | Posterior subcapsular opacities | Posterior subcapsular opacities | Posterior subcapsular opacities | Posterior subcapsular opacities |
Coloboma (Y/N) | N | N | N | N |
Nystagmus (Y/N) | Y | Y | Y | Y |
Strabismus (Y/N) | Y | N | Y | Y |
Glaucoma (Y/N) | N | N | N | N |
Extra ocular abnormality (Y/N) | N | N | N | N |