Table 2.
Comparison of phenotypic features among reported cohorts.
| Characteristics | Our study (n = 12) | Levy et al.12 (n = 136) | Dollfus et al.13 (n = 31) |
|---|---|---|---|
| Male: female ratio | 1:1 | 69:67 | 9:22 |
| Origin (%) | Chinese (100) | Caucasians (100) | Caucasians (100) |
| Phenotype of NLRP3-AID (%) | Moderate (MWS) (100) | NLRP3-AID* | Severe (CINCA) (100) |
| Eye involvement (%) | 7 (58) | 97 (71) | 31 (100) |
| Conjunctivitis (%) | 7 (58) | 87 (64) | 20 (65) |
| Uveitis (%) | 2 (17) | 9 (7) | 16 (52) |
| Keratitis (%) | 0 (0) | 0 (0) | 13 (42) |
| Vitritis (%) | 0 (0) | 0 (0) | 4 (13) |
| Cataract (%) | 0 (0) | 4 (3) | 5 (16) |
| Glaucoma (%) | 1 (8) | 2 (1) | 0 (0) |
| Papilledema (%) | 5 (42) | 29 (21) | 13 (42) |
| Optic neuritis (%) | 2 (17) | 0 (0) | 0 (0) |
| Optic atrophy (%) | 2 (17) | 6 (4) | 9 (29) |
*Not given in publication.