autosomal dominant vitreoretinochoroidopathy

Term ID

DOID:0111569

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. (2)

References

• GARD:5507
• MESH:C536352
• OMIM:193220
• ORDO:3086
• SNOMEDCT_US_2023_03_01:711162004
• UMLS_CUI:C3888099

Ontology

Human Disease   ( DOID:0111569 )