| Disease ID | Source | Name | Description |
| 618513 | OMIM | Leber congenital amaurosis 19 (LCA19) | A form of Leber congenital amaurosis, 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. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones. The disease may be caused by variants affecting the gene represented in this entry. |