Table 4.
CYP1B1 in adult-onset POAG worldwidea
| Country | Phenotype | % frequency of mutations | Predominant mutation (%) | Reference |
|---|---|---|---|---|
| Canada | JOAG | 3 (5) | R368H, g.1546dup10, L345F (1.6 each) | Vincent et al.[73] |
| France | POAG | 11 (4.6)) | A443G (1.3) | Melki et al.[74] |
| POAG | 3 (2.2) | |||
| Germany | JOAG | 3(8.5) | Y81N (1.5) | Pasutto et al.[75] |
| NTG | 1(4.1) | |||
| India | POAG | 9 (4.5) | S515L (2) | Acharya et al.[76] |
| India | POAG | 27 (10.8) | R368H (4.0) | Kumar et al.[77] |
| India | POAG | 18 (17.3) | R368H (5.8) | Chakrabarti et al.[78] |
| JOAG | 7 (23.3) | G61E (3.3) | ||
| PACG | 10 (11.1) | R368H (5.6) | ||
| Iran | POAG | 7 (11.1) | R368H (4.7) | Suri et al.[79] |
| Spain | POAG | 9 (10.9) | Y81N (3.6) | Lopez-Garrido et al.[80] |
JOAG: Junvenile open angle glaucoma, NTG: Normal tension glaucoma, POAG: Primary open angle glaucoma, Figures given in parentheses are in percentage