Table 1 Summary of clinical features observed in affected individuals in families 1–4 with OCA.
Family (ID) | Nystagmus | Hair colour | Eye colour | Other ocular features | Other systemic features |
|---|---|---|---|---|---|
1 (X:1) | + | Blonde | Blue | Iris transillumination defects, depigmented fundus, foveal hypoplasia, alternating esotropia, optic disc hypoplasia | − |
2 (X:2) | + | NA | NA | Blunted foveal reflex, depigmented fundus. ERG limited and awaiting a repeat | NA |
3 (X:3) | + | Blonde | Blue | Iris transillumination defects blunted foveal reflex | − |
3 (X:4) | + | Dark blonde | Blue | transillumination defects, foveal hypoplasia, strabismus | − |
3 (X:5) | NA | Strawberry blonde | NA | Blunted foveal reflex | − |
4 (IX:9) | + | Blonde | Blue | Pale fundi, iris transillumination defects, foveal hypoplasia, myopia, strabismus. Nyctalopia, photosensitivity and peripheral VF loss with normal ERG | |
4 (IX:10) | + | Pigmented | Blue | − | Mild learning difficulties |
4 (IX:12) | + | Light brown | NA | − | − |
4 (IX:14) | + | Dark brown | Blue | Pale fundi | − |
4 (IX:15) | + | Pigmented | Blue | − | − |
4 (IX:16) | + | NA | NA | NA | NA |
4 (IX:20) | + | Blonde | Blue | − | − |
4 (IX:22) | + | White/ blonde | Blue | − | − |
4 (X:15) | + | Brown | Brown | Myopia | Neonatal intraventricular haemorrhage |
