| Disease ID | Source | Name | Description |
| 153700 | OMIM | Macular dystrophy, vitelliform, 2 (VMD2) | An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. The disease is caused by variants affecting the gene represented in this entry. |
| 613194 | OMIM | Retinitis pigmentosa 50 (RP50) | 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. |
| 611809 | OMIM | Bestrophinopathy, autosomal recessive (ARB) | A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. The disease is caused by variants affecting the gene represented in this entry. |
| 193220 | OMIM | Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) | A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. The disease is caused by variants affecting the gene represented in this entry. |