[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]

Klin Monbl Augenheilkd. 2007 Mar;224(3):207-9. doi: 10.1055/s-2007-962947.
[Article in German]


The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defect in early embryogenesis. We report on a 35-year-old patient with a mild Lowe syndrome phenotype including incomplete lenticular opacities. Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cataract / diagnosis*
  • Cataract / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Mutation
  • Oculocerebrorenal Syndrome / diagnosis*
  • Oculocerebrorenal Syndrome / genetics*
  • Phosphoric Monoester Hydrolases / genetics*
  • RNA Splice Sites / genetics*


  • RNA Splice Sites
  • Phosphoric Monoester Hydrolases
  • OCRL protein, human