Disease ID | Source | Name | Description |
217300 | OMIM | Cornea plana 2, autosomal recessive (CNA2) | A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. The disease is caused by variants affecting the gene represented in this entry. |