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

IllnessNorrie syndrome


Short information

Curated single gene sequence analysis according to the clinical suspicion Norrie syndrome

Number of genes
1 Accredited laboratory test
Examined sequence length
0,5 kb (Core-/Core-canditate-Genes)
- (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-GHeredity

Informations about the disease

Clinical Comment

Bilateral, symmetrical greyish-yellow elevated masses (pseudogliomas) often behind the lens along with retinal vascular dysgenesis, leukocoria. Partial/complete retinal detachment in first few weeks/months. Early cataracts, nystagmus, anterior/posterior synechiae, band keratopathy, shallow anterior chamber with increased intraocular pressure. Phthisis bulbi later on with opacified corneas, sunken orbits. Vision from light perception to congenital complete blindness. Males develop progressive asymmetrical sensorineural severe hearing loss in childhood. Developmental delay, intellectual disability in 20-30%, cognitive + psychosocial behavioral disorders, psychosis. Other: growth failure, microphthalmia, varied chronic seizure disorders, peripheral vascular disease, erectile dysfunction. Rarely carrier females with retinal detachment, abnormal retinal vasculature, vision or mild hearing loss


  • Alias: Atrophia bulborum hereditaria
  • Alias: Episkopi blindness
  • Norrie[-Warburg] disease (NDP)
Heredity, heredity patterns etc.
  • XLR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined