Conditions / Genetic
aniridia 1
info · Genetic
An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.
Signs and symptoms
- Anterior subcapsular cataract
- Ectopia pupillae
- Retinal vascular tortuosity
- Bilateral ptosis
- Corneal erosion
- Exotropia
- Chorioretinal hypopigmentation
- Hypoplasia of the fovea
- Aniridia
- Hypoplasia of the iris