Table 1.
Clinical data of POAG patients having sequence changes in OPTC
| Patient ID (age at diagnosis) | Location | Mutation | SIFT scorea | Glaucoma subtype | Visual acuity RE, LE | IOP (mm of Hg) RE, LE | C:D ratio RE, LE | Visual field changes |
| GL131 (37 yrs) | Exon 2 | Glu66Gly* | 0.03 | JOAG | No PL, FC(1ft) & PL+ PR | 16b, 42 | media hazy, 0.8 | Glaucomatous field changes |
| GL77 (65 yrs) | Exon 3 | Ile89Thr* | 0.66 | POAG | 6/12, 6/6 | 25,18 | 0.8, 0.7 | Glaucomatous field changes |
| GL42 (32 yrs) | Exon 4 | Phe162Phe* | NA | JOAG | 6/18, NoPL | 17, ND | 0.8, ND | Localized defect near fixation point in the infero-temporal quadrant and tubular vision in right eye |
*Novel variant; aSIFT score predicts phenotypic effect; < 0.05 predicted to be deleterious, =/>0.05 tolerated [31]; bThe IOP in right eye of GL131 is post-operative value.
The cDNA numbers correspond to Genbank accession number NM_014359
Abbreviations used: RE: right eye and LE: left eye; IOP: Intra ocular pressure; C:D ratio: cup to disc ratio; PO: post operative; BE: both eye; PL: perception of light; PR: projection of rays; FC: finger counting; ND: not detectable due to Band keratopathy in left eye