Table 1 of
Malaichamy, Mol Vis 2014; 20:341-351. Table 1 of
Malaichamy, Mol Vis 2014; 20:341-351.
Table 1. CSNB Clinical parameters
| Family/ Patient | Age/ Sex | Gene | Spherical equivalent (Diopter) | BCVA in logMAR | Fundus Findings | |
|---|---|---|---|---|---|---|
| Myopic tessellated fundus | Disc | |||||
| Family 1/ Patient 1 | 31/M | TRPM1 | OD: −8.38 OS: −7.88 | OD: 0.2 OS: 0.2 | YES | Tilted disc |
| Family 2/ Patient 2 | 46/F | TRPM1 | OD: −3.75 OS: −7.50 | OD: 0.8 OS: 0.5 | YES | Titled disc |
| Affected daughter of patient 2 from Family 2 | 25/F | TRPM1 | OD: −2.00 OS: −2.25 | OD: 0.5 OS: 1.3 | YES | Tilted disc |
| Family 4/ Patient 4 | 32/M | TRPM1 | OD: −6.50 OS: −6.13 | OD: 0.5 OS: 0.5 | YES | Myopic disc |
| Family 5/ Patient 5 | 30/M | TRPM1 | OD: −2.50 OS: −1.25 | OD: 0.2 OS: 0.4 | YES | Tilted disc |
| Family 6/ Patient 6 | 20/F | TRPM1 | OD: −8.50 OS: −7.50 | OD: 1.0 OS: 0.6 | YES | Tilted disc |
| Affected sib of patient 6 from Family 6 | 24/M | TRPM1 | OD: −5.00 OS: −9.50 | OD: 1.3 OS: 0.8 | YES | OD: Hypotonic Disc and Macula, 0.4 CDR, Post Trabeculectomy OS: Tilted Disc with 0.7 CDR |
| Family 7/ Patient 7 | 34/F | TRPM1 | OD: −6.00 OS: −6.25 | OD: 0.6 OS: 0.6 | YES | Tilted disc |
| Affected daughter of patient 7 from Family 7 | 14/F | TRPM1 | OD: −5.50 OS: −5.75 | OD: 0.6 OS: 0.5 | YES | Tilted disc |
| Affected son of patient 7 from Family 7 | 9/M | TRPM1 | OD: −5.50 OS: −5.50 | OD: 0.5 OS: 0.5 | YES | Myopic disc |
| Family 8/ Patient 8 | 49/F | GRM6 | OD: −5.00 OS: −4.50 | OD: 0.3 OS: 0.5 | YES | Tilted disc |
| Family 3/ Patient 3 | 17/F | GPR179 | OD: −6.25 OS: −6.63 | OD: 0.3 OS: 0.2 | YES | Tilted disc |