Conditions / Eye
anterior segment dysgenesis 8
info · Eye
An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.
Signs and symptoms
- Ectopia pupillae
- Ectopia lentis
- Cataract
- Iris transillumination defect
- Iridodonesis
- Hypoplasia of the iris
- Uveal ectropion
- Optic nerve dysplasia
- Microphakia
- Persistent pupillary membrane