bilateral optic nerve hypoplasia

An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.

Signs and symptoms

• Reduced visual acuity
• Visual impairment
• Optic nerve hypoplasia
• Nystagmus
• Remnants of the hyaloid vascular system
• Optic nerve aplasia
• Morning glory anomaly

Also known as: ONH; familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia