| Disease ID | Source | Name | Description |
| 258100 | OMIM | Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) | A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. The disease is caused by variants affecting the gene represented in this entry. |
| 613758 | OMIM | Retinitis pigmentosa 47 (RP47) | A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. |