anterior segment dysgenesis 7

An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.

Signs and symptoms

• Corneal opacity
• Cataract
• Reduced visual acuity
• Microcornea
• Sclerocornea
• Ocular anterior segment dysgenesis
• Ocular hypertension
• Anterior synechiae of the anterior chamber
• Buphthalmos
• Microphthalmia