Term Name: bestrophinopathy
Synonyms: autosomal recessive bestrophinopathy
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.
Ontology: Human Disease [DOID:0050662]   ( DOID:0050662 )

Relationships
is a type of: macular degeneration