A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree
Table 1
Ophthalmic examinations of a Chinese family with peripheral sclerocornea.
Affected cases
Age (years)
Eye
Average keratometry (diopter)
Average corneal diameter (mm)
Pachymetry (μm)
Anterior chamber depth (mm)
Axial length (mm)
I-1
87
R
46.5
6.1
403
3.86
22.45
L
44.5
5.8
409
3.88
22.39
II-1
63
R
43.4
6.5
472
2.01
23.08
L
45.3
6.6
479
2.12
22.92
II-2
55
R
44.0
8.6
475
2.68
27.11
L
43.6
8.5
476
2.60
24.36
II-3
52
R
41.9
6.7
521
2.49
23.62
L
43.9
6.8
526
2.49
23.40
III-1
41
R
43.5
8.5
439
2.98
25.12
L
43.2
8.4
428
2.92
25.32
III-5
26
R
44.3
9.8
486
2.84
27.49
L
44.6
9.6
495
2.88
28.86
Average
54.0
44.1
7.7
471
2.60
24.67
Unaffected cases
Age (years)
Eye
Average keratometry (diopter)
Average corneal diameter (mm)
Pachymetry (μm)
Anterior chamber depth (mm)
Axial length (mm)
II-4
50
R
45.1
10.8
578
2.88
23.12
L
45.2
10.9
574
2.90
23.05
II-5
48
R
46.2
11.0
533
3.02
23.52
L
45.7
11.1
550
3.05
23.68
III-6
23
R
45.0
11.2
565
2.96
26.06
L
45.0
11.3
563
2.95
25.89
III-8
28
R
45.8
10.9
584
3.44
24.85
L
45.6
10.9
590
3.45
24.70
III-9
27
R
38.0
11.6
408
3.22
25.50
L
38.0
11.7
412
3.16
25.45
III-10
24
R
42.7
11.8
573
3.28
26.60
L
42.9
11.8
574
3.30
26.07
III-11
11
R
44.8
10.8
550
2.77
22.53
L
44.8
10.8
553
2.68
21.92
III-12
10
R
44.6
10.8
536
3.30
22.80
L
44.2
10.9
533
3.37
22.88
Average
27.6
44.8
11.1
561
3.11
24.29
Mann–Whitney U test was used to compare the measurements between affected and unaffected subjects. An asterisk () indicates the value excluded for statistical analysis because of the pseudophakic status in I-1 and previous bilateral laser-assisted in situ keratomileusis (LASIK) in III-9. Double asterisks () indicate the presence of significant difference () between affected and unaffected cases. R: right; L: left.
