Patient | Gender | Age | Nucleotide amino acid | Homozygous/heterozygous | UCVA | CVA | Corneal optical refection | Nystagmus | Globe retraction | ||
---|---|---|---|---|---|---|---|---|---|---|---|
OD | OS | OD | OS | ||||||||
II:5 | M | 34 | c.1499C>G (p.S500*) | Heterozygous | 1.0 | 1.0 | 1.0 | 1.0 | Normal | − | − |
II:8 | F | 28 | c.1499C>G (p.S500*) | Heterozygous | 0.6 | 0.7 | 1.0 | 1.0 | Normal | − | − |
III:1 | F | 5 | c.1499C>G (p.S500*) | Heterozygous | 0.6 | 0.6 | 0.8 | 0.8 | Normal | − | − |
III:2 | F | 2 | c.1499C>G (p.S500*) | Homozygous | unable | unable | unable | unable | Normal | + | − |