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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSorsby pseudoinflammatory fundus dystrophy, differential diagnosis


Short information

Curated sequence analysis of 1 or altogether 4 genes according to the clinical suspicion Sorsby pseudoinflammatory fundus dystrophy, differential diagnosis

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)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BEST11758NM_004183.4AD, AR
PRPH21041NM_000322.5AD, AR, digenisch

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


  • 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
ICD10 Code

Bioinformatics and clinical interpretation

No text defined