Conditions / Eye
autosomal dominant vitreoretinochoroidopathy
info · Eye
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 heter
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.
Signs and symptoms
- Retinal neovascularization
- Vitreous hemorrhage
- Nyctalopia
- Retinal detachment
- Strabismus
- Color vision defect
- Microcornea
- Pigmentary retinopathy
- Posterior staphyloma
- Nystagmus
Also known as: ADVIRC; VRCP autosomal dominant; vitreoretinochoroidopathy dominant; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos