Table 2.
Ophthalmic Features of 18 Patients Analyzed Phenotypically
| Pt. | Gene | Age | Iris Pigmentation | Iris Translucens | Macular Transparency | Foveal Pit | Autofluorescence Macular Pigment | CVA RE | CVA LE | Nystagmus | Strabismus |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3 | TYR | 14 | LB | 3 | 1 | No | Absent | 20/200 | 20/200 | Yes | No |
| 4 | TYR | 12 | LB | 3 | 1 | No | Absent | 20/100 | 20/100 | Yes | — |
| 9 | TYR | 37 | LB | 2 | 2 | No | ND | 20/200 | 20/200 | Yes | Yes |
| 11 | TYR | 8 | LB | 2 | 2 | — | Absent | 20/200 | 20/200 | Yes | Yes |
| 15 | TYR | 16 | LB | 3 | 2 | No | Absent | 20/600 | 20/600 | Yes | No |
| 16 | TYR | 24 | LB | 3 | 2 | No | Absent | 20/600 | 20/600 | Yes | No |
| 17 | TYR | 9 | LB | 1 | 3 | Yes | ND | 20/100 | 20/50 | No | Yes |
| 18 | TYR | 13 | GB | 1 | 3 | No | Present | 20/25 | 20/25 | No | No |
| 22 | TYR | 15 | LB | 3 | 2 | No | Absent | 20/100 | 20/100 | Yes | Yes |
| 23 | TYR | 40 | LB | 3 | 1 | No | Absent | 20/400 | 20/200 | Yes | Yes |
| 26 | TYR | 12 | LB | 3 | 1 | ND | ND | 20/400 | 20/400 | Yes | Yes |
| 33 | TYR | 5 | LB | 2 | 3 | No | Present | 20/100 | 20/100 | No | Yes |
| 35 | P | 8 | GB | 2 | 2 | Yes | Absent | 20/200 | 20/200 | Yes | Yes |
| 37 | P | 41 | GG | 1 | 3 | No | Present | 20/60 | 20/60 | Yes | Yes |
| 38 | P | 34 | GB | 1 | 3 | Yes | Present | 20/60 | 20/40 | Yes | Yes |
| 40 | TYRP1 | 18 | LB | 1 | ND | Yes | Present | 20/100 | 20/100 | Yes | Yes |
| 41 | MATP | 51 | GB | 3 | 1 | No | Absent | 20/400 | 20/200 | Yes | Yes |
| 43 | MATP | 4 | ND | ND | ND | Yes | Present | 20/100 | 20/200 | Yes | Yes |