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 |