Leber congenital amaurosis 4

A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gen

A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.

Signs and symptoms

• Nyctalopia
• Pendular nystagmus
• Blindness
• Reduced visual acuity
• Macular atrophy
• Cone/cone-rod dystrophy
• Optic disc pallor
• Undetectable light- and dark-adapted electroretinogram
• Attenuation of retinal blood vessels
• Keratoconus

Also known as: LCA4