Table 1 of
Zou, Mol Vis 2021; 27:221-232. Table 1 of
Zou, Mol Vis 2021; 27:221-232.
Table 1. The clinical characterization and genetic test of patients with SCA7.
| Family No. | Patient No. | Age (y) | Sex | Age at onset Ophthalmol | Age at onset cerebellar | Expanded repeat | Normal repeat | BCVA OD | BCVA OS | OCT | VF | AF | ERGs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Case III:3 | 54 | F | 45 | 51 | ≈45 | 10 | 0.1 | 0.1 | Macular atrophy with hyperreflective dots | Central scotoma | Dark macular with hyperfluorescent ring | Severely decreased cone responses with preserved rod function |
| Case III:9 | 57 | M | 40s | 40s | ≈43 | 10 | NA | NA | NA | NA | NA | NA | |
| Case IV:5 | 32 | M | 26 | 30 | ≈50 | 10 | 0.4 | 0.32 | NA | NA | NA | Severely decreased cone responses with preserved rod function | |
| Case IV:4 | 26 | M | Teenage | 18 | ≈56 | 10 | HM | HM | NA | NA | NA | NA | |
| 2 | Case II:1 | 14 | F | 12 | 13 | ≈62 | 10 | 0.1 | 0.08 | Macular atrophy with hyperreflective dots | Central scotoma | Dark macular with hyperfluorescent ring | Severely decreased cone responses with a little preserved rod function (age 14). Extinguished (age 18) |
| Case I:1 | 38 | M | 39 | 40s | ≈45 | 10 | 0.1(age 42) | 0.1(age 42) | Normal(age 38) | NA | NA | Normal (age 38) | |
| 3 | Case III:2 | 32 | M | 28 | 30 | ≈48 | 10 | 0.1 | 0.1 | Macular atrophy with hyperreflective dots | Central scotoma | Dark macular with hyperfluorescent ring | Severely decreased cone and rod responses |
| Case IV:1 | 4 | M | 2 | 2 | ≈113 | 6 | NLP | NLP | NA | NA | NA | NA |