X-linked Alport syndrome: correlation between the type of mutation and the occurrence of lenticonus
| Mutation | Lenticonus | ||
|---|---|---|---|
| Absent | Present | Frequency (%) | |
| Large rearrangement | 21 | 11 | 34.40 |
| Nonsense deletion insertion | 28 | 16 | 36.40 |
| Splice site | 20 | 4 | 16.7 |
| Missense | 58 | 4 | 6.45 |
| Total | 127 | 35 | 21.60 |