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

BMC Molecular Biology

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

Patient ID (age at diagnosis)	Location	Mutation	SIFT score^a	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	16^b, 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

ISSN: 1471-2199