Leber congenital amaurosis 6

A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.

Signs and symptoms

• Constriction of peripheral visual field
• Slow pupillary light response
• Flat cornea
• Abnormal electroretinogram
• Foveal atrophy
• Severely reduced visual acuity
• Focal retinal arteriolar constriction
• Visual acuity no light perception
• Moderately reduced visual acuity
• Reduced visual acuity

Also known as: LCA6