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Human Disease

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
Ontology
Human Disease   ( DOID:0050662 )
Relationships
is a type of
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Genes Involved
Zebrafish Models