| Disease ID | Source | Name | Description |
| 610612 | OMIM | Leber congenital amaurosis 12 (LCA12) | A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry. |