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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