| Disease ID | Source | Name | Description |
| 617175 | OMIM | Retinal dystrophy with or without extraocular anomalies (RDEOA) | An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency. The disease is caused by variants affecting the gene represented in this entry. |