Leber congenital amaurosis 19

A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.

Signs and symptoms

• Optic disc pallor
• Nystagmus
• Retinal degeneration
• Visual impairment
• Attenuation of retinal blood vessels
• Decreased light- and dark-adapted electroretinogram amplitude