Disease ID | Source | Name | Description |
216820 | OMIM | Coloboma, ocular, autosomal recessive (COAR) | An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. The disease is caused by variants affecting the gene represented in this entry. |