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

IllnessRetinitis pigmentosa, X linked, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Retinitis pigmentosa, X-linked, comprising altogether 8 curated genes according to the clinical signs

Number of genes
8 Accredited laboratory test
Examined sequence length
17,1 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

Retinitis Pigmentosa (RP) is the most common form of hereditary retinal dystrophy characterised by photoreceptor degeneration. RP manifests with initial night blindness and tunnel vision, followed by secondary loss of cone photoreceptors, leading to reduced visual acuity and macular degeneration. The onset and progression of RP and the severity of symptoms can vary significantly between patients, even within the same family. Autosomal recessively inherited RP is identified in more than half of all patients, and X-linked inheritance is comparatively rare. In males, an altered copy of the gene in each cell is sufficient to cause the disease. In women, mutations in both copies of the gene must usually occur to cause the disease. However, at least 20% of women who carry only one mutated copy of the gene develop retinal degeneration and associated vision loss. In most cases, men experience more severe symptoms of the disease than women. However, there are often different clinical manifestations. An inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1417/


  • Alias: Retinopathia pigmentosa XL
  • Allelic: Aland Island eye disease (CACNA1F)
  • Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
  • Allelic: Deafness, XL 1 (PRPS1)
  • Allelic: Gout, PRPS-related (PRPS1)
  • Allelic: Macular degeneration, XL atrophic (RPGR)
  • Allelic: Night blindness, congenital stationary (incomplete), 2A, XL (CACNA1F)
  • Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
  • Arts syndrome (PRPS1)
  • Choroideremia (CHM)
  • Cone-rod dystrophy, XL, 1 (RPGR)
  • Cone-rod dystrophy, XL, 3 (CACNA1F)
  • Exudative vitreoretinopathy 2, XL (NDP)
  • Norrie disease (NDP)
  • Phosphoglycerate kinase 1 deficiency [myopathy + RP] (PGK1)
  • Retinitis pigmentosa 2 (RP2)
  • Retinitis pigmentosa 23 (OFD1)
  • Retinitis pigmentosa 3 (RPGR)
  • Retinitis pigmentosa, XL + sinorespiratory infections, with/-out deafness (RPGR)
Heredity, heredity patterns etc.
  • XL
  • XLR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined