Table 5.
Clinical Characteristics of POAG Patients Carrying Rare WDR36 Variants Not Identified in Controls
| Patient | WDR36 Variant | Age (y) Current/At Diagnosis | IOP at Diagnosis (mm Hg) OD/OS | Current IOP (mm Hg) OD/OS | Visual Field Alteration OD/OS | C/D Ratio OD/OS | Treatment (no. drugs) OD/OS |
|---|---|---|---|---|---|---|---|
| HAV48 | p.Y97S | 67/61 | 24/40 | 10/9 | N/M | 0.1/0.9 | 1/0 (surgery) |
| HAV3 | p.L490M | 77/64 | 38/32 | 12/18 | Amaurosis/M | 1.0/0.5 | 0 (surgery†)/0 (surgery) |
| GLC64 | p.S743W | 68/60 | 24/26 | 4/17 | NA/NA | NA/0.6 | 1/1 |
| GLC16 | c.-577G>A (Promoter) | 50/45 | 30/30 | 18/23 | E/S | 0.1/0.1 | 1/1 |
| HAV12 | c.IVS3−47G>C | 86/82 | 22/36 | 6/7 | NA/NA | 0.3/0.8 | NA/NA |
| HAV29 | c.IVS3−14insT | 68/60 | NA/NA | 15/15 | E/M | 0.9/0.9 | 3/3 |
| G149 | c.-577G>A, c.IVS7−39T>G | 46/35 | 25/24 | 20/20 | E/N | 0.3/0.4 | 1/1 |
| HAV15 | *16T>C (3′UTR) | 70/53 | 24/20 | 15/16 | S/S | 0.8/0.8 | 1/1 |
| G16 (OHT) | p.S664L | 76/NA | NA/NA | 20/20 | N/N | 0.2/0.4 | 2/2 |
| G114 (OHT) | c.IVS3−72T>G, IVS9+86delT | 45/34 | 22/26 | 12/13 | N/N | 0.2/0.2 | 1/1 |
| GLC75 (NTG) | c.-70A>G (5′UTR) | 39/39 | 16/17 | 12/14 | M/E | 0.2‡/0.1§ | 1/1 |
Data of two OHT patients and one NTG patient are also included. NA, not available.
†
Two trabeculectomies + endocyclophotocoagulation.
‡
Thinning of superotemporal neuroretinal rim and decreased retinal nerve fiber layer.
§
Reduction of the inferior neuroretinal rim. Mutations indicated in bold are novel. Patients were classified as having normal (N), early (E), moderate (M), or severe (S) visual field alteration, according to the classification by Hodapp et al.35