Table 3 of Acharya, Mol Vis 2006; 12:399-404.


Table 3.

Clinical features of eastern Indian patients carrying mutations in CYP1B1 showing their glaucomatous status. In the "Patient ID" column, the numbers in parentheses indicate the age at which patients were diagnosed with POAG. Among 9 patients three (GL11, GL34, and GL136) had a history of glaucoma in the family and others were sporadic patients. All mutations were heterozygous, except for R523T (patient GL136) which was homozygous. The mutations marked with an asterisk are novel to this report. IOP are given for right eye and left eye, respectively, in mm of Hg. Abbreviations used in the table: IOP indicates intraocular pressure; RE and LE indicates right eye and left eye, respectively; and C:D ratio indicates the cup to disc ratio.

                                    C:D
Patient                 IOP        ratio
 (age)    Mutation    (RE,LE)     (RE,LE)     Glaucoma subtype and visual field changes
-------   --------   ----------   -------   ---------------------------------------------
 GL34      E229K       24,32      0.7,0.8   JOAG; Glaucomatous field changes
 (17)

 GL27      W57C        28,26      0.8,0.8   JOAG; Glaucomatous field changes
 (17)

 GL11      R368H       16,22      0.8,0.7   JOAG; Upper arcuate schotoma more in the
 (37)                                       right eye than in the left eye

 GL136     R523T*      16,16       total    JOAG; Gross glaucomatous changes in the right
 (18)                  (post      cupping   eye and in the left eye it could not be done
                     operative)    (both    due to severe visual impairment.
                                   eyes)

 GL273     D530G*      19,26      0.4,0.4   POAG; Enlarged blind spot in right eye,
 (57)                                       Inferior arcuate zone depression in left eye.

 GL281     S515L*      14,18      0.6,0.6   POAG; Superior arcuate depression in left eye
 (62)

 GL304     S515L*      26,18      0.6,0.6   POAG; Superior arcuate zone depression in
 (58)                                       both eyes

 GL312     S515L*      31,31      0.5,0.5   POAG; Superior arcuate zone depression in
 (61)                                       both eyes

 GL319     S515L*      15,20      0.5,0.7   POAG; Both eyes showing minimum enlargement
 (60)                                       of blind spot

Acharya, Mol Vis 2006; 12:399-404 <http://www.molvis.org/molvis/v12/a46/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535