bestrophinopathy

Term ID

DOID:0050662

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. (3)

References

• MESH:C567518
• MIM:611809

Ontology

Human Disease   ( DOID:0050662 )