Leber congenital amaurosis with early-onset deafness

A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.

Signs and symptoms

• Sensorineural hearing impairment
• High hypermetropia
• Reduced visual acuity
• Retinal degeneration
• Retinal pigment epithelial mottling
• Nystagmus
• Photophobia
• Peripapillary atrophy

Also known as: LCAEOD