Table 3 of
Lopez-Garrido, Mol Vis 2006;
12:748-755.Table 3 of
Lopez-Garrido, Mol Vis 2006;
12:748-755.
Table 3.
CYP1B1 genotype-phenotype correlations in patients with OHT, POAG, and control subjects. All mutations are heterozygous. The CYP1B1 GenBank accession number is NM_000104. The IOP values are with medical treatment. Since this is a retrospective study, IOP values before treatment were not always available. The asterisk indicates novel mutations. In the table, POAG SUS indicates POAG suspect; IOP indicates intraocular pressure; OD indicates right eye; OS indicates left eye; VFA indicates visual field alteration; C/D indicates cup-disc ratio of optic nerve; N indicates normal; E indicates early; M indicates moderate; S indicates severe; and ND indicates not determined due to oblique insertion of the optic nerve head.
Age at
Amino Age at time of IOP C/D Treatment
Nucleotide acid Subject diagnosis study (mmHg; VFA Ratio (number
change change number Phenotype (years) (years) OD/OS) (OD/OS) (OD/OS) of drugs)
---------- ------ ------- --------- --------- ------- ------ ---------- ------- ---------
c.936G>C A189P* 99 OHT 12 24 20/20 N/N 0.9/0.8 3
c.1359G>T A330S* 6 OHT 58 62 18/18 N/N 0.5/0.8 2
c.1699C>G A443G 114 OHT 33 38 16/20 N/N 0.2/0.2 1
c.454C>G S28W* 62 POAG 59 65 20/20 E/N 0.7/0.7 2
c.553G>A G61E 89 POAG 65 67 17/17 E/E 0.3/0.3 1
c.612T>A Y81N 5 POAG 77 80 22/22 M/M 0.7/0.7 2
c.612T>A Y81N 11 POAG 49 54 17/17 E/E ND/ND 1
c.612T>A Y81N 115 POAG 58 61 22/20 E/M 0.5/0.3 2
c.803G>T Q144H* 80 POAG 58 67 18/16 ND/M ND/ND 3
c.804C>T R145W* 80 POAG 58 67 18/16 ND/M ND/ND 3
c.1056G>A E229K 107 POAG 66 80 18/18 E/N 0.5/0.4 1
c.1056G>A E229K 127 POAG 48 52 20/21 E/E 0.7/0.7 1
c.1596G>T V409F* 128 POAG 61 67 20/14 S/S 0.8/0.8 2+surgery
c.612T>A Y81N 63 POAG SUS - 42 12/12 N/N 0.6/0.6 0
c.612T>A Y81N 84 POAG SUS - 44 13/13 N/N 0.5/0.6 0
c.526C>T P52L* 86 Normal - 66 16/15 N/N ND/ND 0
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