| Disease ID | Source | Name | Description |
| 612095 | OMIM | Retinitis pigmentosa 41 (RP41) | 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. |
| 603786 | OMIM | Stargardt disease 4 (STGD4) | A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. The disease is caused by variants affecting the gene represented in this entry. |
| 612657 | OMIM | Cone-rod dystrophy 12 (CORD12) | 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. |
| 608051 | OMIM | Retinal macular dystrophy 2 (MCDR2) | A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula. The disease is caused by variants affecting the gene represented in this entry. |