Table 8 of Lopez-Martinez, Mol Vis 2007; 13:862-872.


Table 8. Clinical features of glaucoma patients with pathogenic myocilin mutations

Mutation information was based on the MYOC GenBank accession number: NM_000261. IOP values were obtained following medical treatment. IOP records before treatment were not always available. The asterisk indicates novel mutations. IOP: intraocular pressure, OD: right eye, OS: left eye, C/D: cup-disc ratio of optic nerve, ND: not determined due to oblique insertion of the optic nerve head.

                                                                                 Visual                    Treatment
                         Age at the                          IOP       C/D       field                     (number of
               Subject    time of      Age at               OD/OS     Ratio    alteration   Iridocorneal    drugs)/
  Mutation     number    the study    diagnosis   Gender   (mmHg)    (OD/OS)    (OD/OS)        angle        surgery
------------   -------   ----------   ---------   ------   -------   -------   ----------   ------------   ----------
R346T*           19          66          44         M       10/10    0.9/0.7    Severe/         1/2          3/Yes
(c.1059 G>C)                                                                    severe
Q368Stop         67          68          56         M       20/16    0.9/0.9    Severe/          4           2/Yes
(c.1124C>T)                                                                     severe
A445V            50          72          67         F       15/15     ND/ND     Early/           4           2/No
(c.1356 C>T)                                                                    early
Y479H*            3          40          32         M       14/16    0.4/0.4    Early/           4           1/No
(c.1457 T>C)                                                                    early

Lopez-Martinez, Mol Vis 2007; 13:862-872 <http://www.molvis.org/molvis/v13/a94/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535