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Table 1 Clinical data of POAG patients having sequence changes in OPTC

From: Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change

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
  1. *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.
  2. The cDNA numbers correspond to Genbank accession number NM_014359
  3. 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