Term Name: | bestrophinopathy |
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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 ) |