Table 2 of Millá, Mol Vis 2013; 19:1707-1722.


Table 2. Number of index patients analyzed and distribution of mutations in MYOC and CYP1B1 found in the families studied.

Type of glaucoma MYOC analysis (n) No. families with MYOC mutation CYP1B1 analysis (n) No. families with CYP1B1 mutation
Axenfeld-Rieger Syndrome 5 - 4 2/4 (50%)
Closed-angle glaucoma 7 - - -
Glaucoma suspect 1 - - -
Juvenile-onset open angle glaucoma 18 1/18 (5.6%) 21 2/21 (9.5%)
Normal tension glaucoma 33 1/33 (3%) 1 -
Ocular hypertension 16 1/16 (6.2%) 2 -
Pigmentary glaucoma 1 - - -
Primary congenital glaucoma 21 1/21 (4.8%) 25 9/25 (36%)
Primary open angle glaucoma 96 5/96 (5.2%) 45 3/45 (6.7%)
Pseudoexfoliative glaucoma 3 - - -
Unclassified 6 - 6 -
Total index patients 207 9/207 (4.4%) 102 16/102 (15.7%)