| Disease ID | Source | Name | Description |
| 248200 | OMIM | Stargardt disease 1 (STGD1) | 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. |
| 262300 | OMIM | Achromatopsia 3 (ACHM3) | An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. The disease is caused by variants affecting the gene represented in this entry. |