Table 1 of Liu, Mol Vis 2013; 19:1834-1840.
Individual | Gender | Age/onset-age | Visual acuity (right/left) and refractive error examination | nystagmus | Abnormal head movement | Neurologic examination | mutation |
---|---|---|---|---|---|---|---|
II:1 | Male | 72/ 5 month | 0.03/0.1 myopia | Conjugate, horizontal | yes | Normal | Hemizygous |
III:1 | Male | 42 | 1.0/1.2 | NO | NO | Normal | NO |
III:2 | Female | 40 | 1.0/1.0 | NO | NO | Normal | NO |
III:3 | Female | 40/4 month | 0.2/0. Three myopia astigmatism (right) | Conjugate, horizontal | yes | Normal | heterozygous |
III:4 | Male | 42 | 1.0/1.0 | NO | NO | Normal | NO |
III:5(proband) | Female | 39/5 month | 0.1/0.3 myopia | Conjugate, horizontal | yes | hemiplegia, right Babinski sign was positive | heterozygous |
III:6 | Male | 39 | 0.9/0.9 | NO | NO | Normal | NO |
III:7 | Female | 34 | 0.8/0.8 | NO | NO | Normal | heterozygous |
III:8 | Male | 36 | 1.0/1.0 | NO | NO | Normal | NO |
IV:1 | Female | 15 | 1.0/1.0 | NO | NO | Normal | NO |
IV:2 | Male | 9 | 1.0/1.0 | NO | NO | Normal | NO |
IV:3 | Male | 21/3 month | 0.3/0.2 myopia | Conjugate, horizontal | yes | Normal | Hemizygous |
IV:4 | Female | 12/3 month | 0.3/0.3 myopia | Conjugate, horizontal | yes | Normal | heterozygous |
IV:5 | Female | 17 | 1.0/1.0 | NO | NO | Normal | NO |
IV:6 | Male | 13/4 month | 0.3/0.1 Hyperopia | Conjugate, horizontal | yes | Normal | Hemizygous |
IV:7 | Male | 12/3 month | 0.2/0.3 myopia | Conjugate, horizontal | yes | Normal | Hemizygous |