Table 2.
Detailed patients characteristics
| Patient | Sex | Presenting complaint | Family history of Rb | Age at diagnosis, years | Follow-up, months | Affected eye | Focality | Location | Number of tumor(s) | RB1 mutation |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | Family screening | Yes | 39 | 100 | Bilateral | Multifocal | Temporal RE/posterior pole LE | 1 RE (+1 coloboma) + 1 LE | Present |
| 2 | F | None | No | 14 | 0 | Left | Unifocal | Temporal superior | 1 | Absent |
| 3 | M | None | No | 75 | 0 | Left | Unifocal | Temporal superior | 1 | No genetic testing |
| 4 | F | Family screening | Yes | 8 | 99 | Bilateral | Multifocal | Posterior pole RE/temporal LE | 1 RE + 1 LE | Present |
| 5 | F | Family screening | Yes | 30 | 90 | Bilateral | Multifocal | Temporal + temporal inferior RE/nasal superior LE | 2 RE + 1 LE | Present |
| 6 | F | Family screening | Yes | 34 | 0 | Right | Unifocal | Inferior vascular arch | 1 | Present |
| 7 | M | Gorlin syndrome in sister | No | 8 | 59 | Right | Unifocal | Superior | 1 | Absent |
| 8 | M | None | No | 65 | 0 | Left | Unifocal | Nasal | 1 | Absent |
| 9 | F | Strabismus/nystagmus | No | 1 | 253 | Right | Multifocal | Temporal inferior + nasal superior | 2 LE | Absent |
| 10 | M | Family screening | Yes | 45 | 12 | Bilateral | Multifocal | Posterior pole RE/2 temporal LE | 1 RE + 2 LE | Present |
| 11 | M | Family screening | Yes | 41 | 0 | Right | Unifocal | Inferior vascular arch | 1 | Present |
| 12 | F | Blurred vision | No | 5.5 | 252 | Right | Unifocal | Posterior pole | 1 | Absent |
| 13 | M | Family screening | Yes | 31 | 108 | Bilateral | Multifocal | Posterior pole RE/inferior vascular arch LE | 1 RE + 1 LE | Present |
| 14 | M | None | No | 15 | 0 | Right | Unifocal | Superior | 1 | Absent |
| 15 | M | Family screening | Yes | 24 | 0 | Right | Unifocal | Temporal inferior | 1 | Present |
| 16 | F | Myodesopsia | No | 14 | 299 | Left | Unifocal | Inferior | 1 | Absent |
RE, right eye; LE, left eye; RPE, retinal pigment epithelium.