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Autosomal dominant vitreoretinochoroidopathy
1 OMIM reference -
1 associated gene
5 connected diseases
4 signs/symptoms
Disease Type of connection
Adult-onset foveomacular vitelliform dystrophy
Best vitelliform macular dystrophy
MRCS syndrome
Retinitis pigmentosa
Retinopathy, Burgess-Black type
Synonym(s):
- ADVIRC

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536352

Gene symbol UniProt reference OMIM reference
BEST1 O76090607854
Very frequent
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla

Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus