bestrophinopathy

A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene

A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.

Signs and symptoms

• Retinal flecks
• Hypermetropia
• Reduced visual acuity
• Retinal pigment epithelial atrophy
• Decreased light- and dark-adapted electroretinogram amplitude

Also known as: autosomal recessive bestrophinopathy