| Disease ID | Source | Name | Description |
| 225100 | OMIM | Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) | An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. The disease is caused by variants affecting the gene represented in this entry. |
| 225200 | OMIM | Ectopia lentis et pupillae (ECTOLP) | An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. The disease is caused by variants affecting the gene represented in this entry. |