Table 3. Clinical details of South Indian POAG patients with MYOC mutations.
| Patient | Mutation | Age (at diagnosis) | GON- C/D ratio | BCVA | GVFD | IOP (mm Hg) at diagnosis | Medication/ Surgery | Family history | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RE | LE | RE | LE | RE | LE | RE | LE | |||||
| Eg-17 | Gln48His | 63 | 0.7 | 0.8 | 6/6 | LPP | + | + | 22 | 26 | Medication | No |
| Eg-10 | Gln48His | 43 | 0.9 | 0.4 | 6/9 | 6/6 | + | EBS | 24.4 | 14.6 | Medication | No |
| BSR-16* | Thr353Ile | 14 | 0.9 | 1 | 6/9 | NLP | + | Blind | 21** | - | Surgery | Yes |
| BSR-16* | Asn480Lys | 14 | 0.9 | 1 | 6/9 | NLP | + | Blind | 21** | - | Surgery | Yes |
| Ngl-12# | Ser331Thr | 68 | 0.9 | 1 | 6/6 | LPP | + | + | 20.6 | 20.6 | Medication | No |
| R-6# | ProLeu370 | 16 | - | - | NLP | NLP | Blind | Blind | - | - | - | Yes |
* - Undergone surgery when blood samples were collected at the age of 34. ** - IOP at sample collection (IOP data at diagnosis, not available). # - Published data [46]. Abbreviations: GVFD- Glaucomatous visual field defect; GON- Glaucomatous optic neuropathy; BCVA- Best corrected visual acuity, using Snellen chart, at time of sample collection; LPP- Light perception with projection; NLP- No light perception (blind); EBS- Enlarged blind spot.