Leber congenital amaurosis 5

A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.

Signs and symptoms

• Undetectable electroretinogram
• Visual loss
• Hypermetropia
• Nystagmus
• High hypermetropia
• Visual impairment

Also known as: LCA5