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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Retinopathy, Burgess-Black type
Autosomal dominant vitreoretinochoroidopathy

BEST1 BEST1


COMMON
GENES
BEST1



Citations in the biomedical literature:


Retinopathy, Burgess-Black type
BEST1
Autosomal dominant vitreoretinochoroidopathy



Retinopathy, Burgess-Black type
Autosomal dominant vitreoretinochoroidopathy

Synonym(s):
- Autosomal recessive bestrophinopathy

Synonym(s):
- ADVIRC

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

Classification (ICD10):
- Diseases of the eye and adnexa -
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: any age
Type of inheritance: autosomal recessive
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536352

Autosomal dominant vitreoretinochoroidopathy

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


Retinopathy, Burgess-Black type

(no data available)