Table 3.
Ocular findings amongst 141 children diagnosed with congenital myasthenic syndrome from 1966 through 2015 at Mayo Clinic
| No. (%) | ||||
|---|---|---|---|---|
| Ptosis | Extraocular movement limitation |
Strabismus | Overall N=141 |
|
| Presynaptic N=11 | 7 (63.6) | 2 (18.2) | 2 (18.2) | |
| ChAT deficiency | 1 | 1 | 1 | 1 |
| SNAP25B | 1 | 0 | 0 | 1 |
| Unknown | 5 | 1 | 1 | 9 |
| Postsynaptic N=51 | 46 (90.2) | 46 (90.2) | 4 (7.8) | |
| Alpha subunit defect | 1 | 2 | 0 | 2 |
| Beta subunit defect | 3 | 3 | 0 | 3 |
| Delta subunit defect | 1 | 1 | 0 | 1 |
| Epsilon subunit defect | 9 | 9 | 1 | 9 |
| Slow channel | 11 | 12 | 3 | 14 |
| Fast channel | 2 | 2 | 0 | 2 |
| Unknown | 19 | 17 | 0 | 20 |
| Synaptic N=14 | 11 (78.6) | 8 (57.1) | 0 (0.0) | |
| Collagen Q mutation | 1 | 0 | 0 | 1 |
| Laminin B2 deficiency | 1 | 1 | 0 | 1 |
| Unknown | 9 | 7 | 0 | 12 |
| Endplate development and maintenance N=16 | 12 (75.0) | 3 (18.8) | 7 (43.8) | |
| Dok- 7 myasthenia | 3 | 1 | 0 | 4 |
| Rapsn deficiency | 8 | 2 | 7 | 11 |
| MuSK deficiency | 1 | 0 | 0 | 1 |
| Defects of glycosylation N=1 | ||||
| DPAGT1 myasthenia | 0 | 0 | 0 | 1 |
| Indeterminate N=48 | 36 (75.0) | 22 (45.8) | 8 (16.7) | 48 |