Leber congenital amaurosis 13

A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.

Signs and symptoms

• Spicular pigmentation of the retina
• Reduced visual acuity
• Optic disc pallor
• Attenuation of retinal blood vessels
• Retinal dystrophy

Also known as: LCA13