Leber congenital amaurosis 9

A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36.

Signs and symptoms

• Reduced visual acuity
• Retinal dots
• Macular pseudocoloboma
• Hypermetropia
• Attenuation of retinal blood vessels
• Nystagmus
• Ultra-low vision with retained light perception
• Optic disc pallor
• Optic atrophy
• Macular atrophy

Also known as: LCA9