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1 OMIM reference -
1 associated gene
4 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
1 OMIM reference -
3 associated genes
10 signs/symptoms
Autosomal dominant vitreoretinochoroidopathy
Adult-onset foveomacular vitelliform dystrophy

BEST1 BEST1
IMPG1
PRPH2


COMMON
GENES
BEST1



Citations in the biomedical literature:


Autosomal dominant vitreoretinochoroidopathy
BEST1
Adult-onset foveomacular vitelliform dystrophy
IMPG1 PRPH2



Autosomal dominant vitreoretinochoroidopathy
Adult-onset foveomacular vitelliform dystrophy

Synonym(s):
- ADVIRC

Synonym(s):
- AOFMD
- AVMD
- Adult-onset foveomacular dystrophy
- Adult-onset foveomacular dystrophy with choroidal neovascularization
- Adult-onset vitelliform macular dystrophy
- Gass disease
- Pseudo-Best disease
- Pseudo-vitelliform macular dystrophy

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: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536352
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Retinitis pigmentosa / retinal pigmentary changes


Autosomal dominant vitreoretinochoroidopathy
Adult-onset foveomacular vitelliform dystrophy

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

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


Very frequent
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Macular dystrophy / absence / hypoplasia of the macula
- Mild visual loss / impaired visual acuity

Frequent
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Choroidal anomalies / atrophy / choroideremia

Occasional
- Retinal detachment
- Visual loss / blindness / amblyopia