Disease ID | Source | Name | Description |
610024 | OMIM | Cone dystrophy, retinal 3A (RCD3A) | A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. The disease is caused by variants affecting the gene represented in this entry. |