Term Name: | autosomal dominant vitreoretinochoroidopathy |
---|---|
Synonyms: | ADVIRC, vitreoretinochoroidopathy dominant, vitreoretinochoroidopathy with microcornea, glaucoma, and cataract, vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos, VRCP autosomal dominant |
Definition: | A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. |
Ontology: | Human Disease [DOID:0111569] ( DOID:0111569 ) |