Human genes for bestrophinopathy
Bestrophinopathy [DOID:0050662]
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.
Synonyms: bestrophinopathy, bestrophinopathies, DOID:0050662, autosomal recessive bestrophinopathy, autosomal recessive bestrophinopathies
Linkouts: OMIM