DISEASES

Disease-gene associations mined from literature

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,  DOID:0050662,  bestrophinopathies,  autosomal recessive bestrophinopathy,  autosomal recessive bestrophinopathies

Linkouts:  OMIM