IllnessMacular dystrophy, vitelliform, differential diagnosis
Summary
Short information
A curated panel containing 4 genes for the comprehensive analysis of the suspected vitelliform Macular dystrophy
ID
MP0810
Number of genes
4
Accredited laboratory test
Examined sequence length
9,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Loss of central visual acuity, metamorphopsia + decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region
Synonyms
- Alias: Adult-onset foveomacular dystrophy with choroidal neovascularization
- Alias: Adult-onset foveomacular vitelliform dystrophy
- Alias: Autosomal recessive bestrophinopathy
- Alias: BEST1 adult-Onset Vitelliform Macular Dystrophy
- Alias: Best vitelliform macular dystrophy
- Alias: Early-onset vitelliform macular dystrophy
- Alias: Juvenile-onset vitelliform macular dystrophy
- Alias: Pseudo-vitelliform macular dystrophy
- Alias: polymorphic vitelline macular degeneration
- Allelic: Bestrophinopathy, AR (BEST1)
- Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
- Allelic: Leber congenital amaurosis 18 (PRPH2)
- Allelic: Microcornea, rod-cone dystrophy, cataract, posterior staphyloma (BEST1)
- Allelic: Retinitis pigmentosa 56 (IMPG2)
- Allelic: Retinitis pigmentosa 7 and digenic form (PRPH2)
- Allelic: Retinitis pigmentosa, concentric (BEST1)
- Allelic: Retinitis pigmentosa-50 (BEST1)
- Allelic: Retinitis punctata albescens (PRPH2)
- Allelic: Vitreoretinochoroidopathy (BEST1)
- Best vitelliform macular dystrophy (BEST1)
- Macular dystrophy, patterned, 1 (PRPH2)
- Macular dystrophy, vitelliform, 2 (BEST1)
- Macular dystrophy, vitelliform, 3 (PRPH2)
- Macular dystrophy, vitelliform, 4 (IMPG1)
- Macular dystrophy, vitelliform, 5 (IMPG2)
Heredity, heredity patterns etc.
- AD
- AR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined