| Disease ID | Source | Name | Description |
| 607476 | OMIM | Rod-cone dystrophy Newfoundland (NFRCD) | A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. The disease is caused by variants affecting the gene represented in this entry. |
| 607475 | OMIM | Bothnia retinal dystrophy (BRD) | A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. The disease is caused by variants affecting the gene represented in this entry. |
| 136880 | OMIM | Retinitis punctata albescens (RPA) | A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. The disease is caused by variants affecting the gene represented in this entry. |