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. 2020 Oct 4;26:670–678.

Table 1. The clinical manifestations of the patients in the family.

Patient Age Sex Iris dysplasia Multiple pupils Posterior embryotoxona Glaucomab Cataract IOPc Corneal abnormalities Limited eye movement Dental dysplasia Periumbilical skin redundancy ECG abnormalities
II:1
 54
 M
 -
 +
 +
 -
 -
 13/15
 small cornea
 -
 +
 +
 N.D.
II:3
 52
 M
 +
 -
 -
 18
 +
 Tn+1/
 central corneal scar
 -
 +
 +
 ST-segment deviation
Tn+1
V2-V5: T-waves inversion
I, II, V6: T-waves low-flat
II:10
 47
 F
 +
 +
 +
 -
 -
 16/15
 endothelium dystrophy
 -
 +
 +
 N.D.
III:2
 36
 F
 -
 +
 -
 19
 +
 Tn/ Tn
 central corneal scar
 -
 +
 +
 N.D.
III:7
 30
 F
 +
 -
 -
 -
 -
 27/27
 reduced endothelial density
 +
 +
 +
 N.D.
III:9
 27
 F
 +
 -
 -
 suspected
 -
 30/31
 reduced endothelial density
 +
 +
 +
 ST-segment deviation
V2, V3: T-waves inversion
V4: T-waves low-flat
IV:1d
M
 +
 N.D.
 N.D.
 N.D.
 N.D.
 N.D.
 central corneal scar
 N.D.
 +
 +
 N.D.
IV:2
 18
 F
 +
 -
 +
 N.D.
 +
 N.D.
 inferior sclerocornea
 -
 +
 +
 N.D.
IV:3 17 F + - + 15 - 56/ inferior sclerocornea - + + arrhythmia

N.D., not determined. a, examined under slit lamp. b, the number indicate the ages at which glaucoma was found. c, II:3 and III:2 underwent anti-glaucoma surgery at the age of about 20. They received IOP measurement (ocular tonometry) at the age of 44 and 28. d, IV:1 died of unknown causes at the age of 5.