Table 2.
Usefulness of ocular features in diagnosis, predicting early-onset renal failure, and identifying mode of inheritance
| Ocular Feature | Diagnostic | Severe Mutations | Early-Onset Renal Failure | Distinguish Autosomal Recessive Alport Syndrome from X-Linked Alport Syndrome in Women |
|---|---|---|---|---|
| Posterior polymorphous corneal dystrophy | Yes (38,40) | Yes | Yes | ? |
| Lenticonus | Yes (50) | Yes | Yes | Yes (52) |
| Central retinopathy | Yes | Yes (31) | Yes (31) | Yes (52) |
| Retinal thinning | Yes (55) | No | No | No |
| Giant macular hole | Yes (51) | Yes | Yes | Yes |
| Peripheral retinopathy | Yes (54) | No (31) | No | No (52) |