Table 1.
Ocular pathology of the four NF2 patients
| Iris: Naevoid hyperplasia |
Lens: Cataracts |
Retina |
Optic nerve: Neurofibroma |
Eye: Coloboma |
||||
|---|---|---|---|---|---|---|---|---|
| Case* | PRM† | Hamartoma | Tuft | Dysplasia | ||||
| 1 (1) | + | Pseudophakia | + | + | − | − | − | − |
| 2 (2) | − | Pseudophakia | + | +(CPERH) | + | + | − | + |
| 3 (2) | − | Pseudophakia | + | + | + | − | − | − |
| 4 (2) | + | Pseudophakia | + | + | + | + | + | + |
*
Cases 1, 2, and 3 had an identical exon 11 nonsense mutation; case 4 had a nonsense mutation of exon 2. cases 1 and 3 were from the same family. (x) = number of eyes in the study.
†
PRM, pre-retinal membrane; CPERH, combined pigment epithelial and retinal hamartoma.