Deutsch
IllnessSorsby pseudoinflammatory fundus dystrophy, differential diagnosis
Summary
Short information
Curated sequence analysis of 1 or altogether 4 genes according to the clinical suspicion Sorsby pseudoinflammatory fundus dystrophy, differential diagnosis
ID
SS0860
Number of genes
4
Accredited laboratory test
Examined sequence length
0,7 kb (Core-/Core-canditate-Genes)
5,0 kb (Extended panel: incl. additional genes)
5,0 kb (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
Progressive AD macular dystrophy, presenting between the 3rd-6th decades, characterized by retinal atrophy + retinal detachment, leading to loss of central vision, then peripheral vision, eventually blindness
Synonyms
- Alias: Retinal dystrophy, loss of central vision, macular disease
- Alias: Sorsby pseudoinflammatory fundus dystrophy
- 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 2 (BEST1)
- Allelic: Retinitis pigmentosa 7 + digenic form (PRPH2)
- Allelic: Retinitis pigmentosa, concentric (BEST1)
- Allelic: Retinitis pigmentosa-50 (BEST1)
- Allelic: Retinitis punctata albescens (PRPH2)
- Allelic: Vitreoretinochoroidopathy (BEST1)
- Doyne honeycomb degeneration of retina (EFEMP1)
- Macular dystrophy, patterned, 1 (PRPH2)
- Macular dystrophy, vitelliform, 2 (BEST1)
- Macular dystrophy, vitelliform, 3 (PRPH2)
Heredity, heredity patterns etc.
- AD
- AR
- digenisch
OMIM-Ps
ICD10 Code
H35.5
Bioinformatics and clinical interpretation
No text defined