| Disease ID | Source | Name | Description |
| 204000 | OMIM | Leber congenital amaurosis 1 (LCA1) | 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. |
| 601777 | OMIM | Cone-rod dystrophy 6 (CORD6) | An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry. |
| 618555 | OMIM | Night blindness, congenital stationary, 1I (CSNB1I) | A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 215500 | OMIM | Choroidal dystrophy, central areolar, 1 (CACD1) | A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry. |
| 300071 | OMIM | Night blindness, congenital stationary, 2A (CSNB2A) | A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. |