| 1 | CAASDS, VSX1 |
| VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. | |
| Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. | |
| Ophthalmology 111(4):828-36. 2004 | |