bestrophinopathy (DOID:0050662)
Alliance: disease page
Synonyms: autosomal recessive bestrophinopathy
Alt IDs: OMIM:611809, MESH:C567518
Definition: 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.