title: [Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].
abstract: BACKGROUND
  The Lowe oculo-cerebro-renal syndrome (OCRL1) is a rare X-linked disease which causes impairment of visual acuity. The situation may be further complicated by corneal alterations.
  
  
  METHODS
  In total seven patients from different families were clinically examined by slit-lamp examination, funduscopy, measurement of the intraocular pressure and ultrasound sonography. Molecular genetic analysis was performed in six patients by sequencing large PCR amplicons with a DNA sequencer and the ABI PRISM Sequence navigator software.
  
  
  RESULTS
  All affected boys were aphakic. Due to high intraocular pressure, iridectomy, goniotomy, cyclo-cryo treatment or trabeculectomy were performed. All patients showed opacity or pannus-like alterations of the cornea. Molecular genetic analysis revealed four novel and two known mutations.
  
  
  CONCLUSIONS
  Reduced visual acuity was partly explained by morphological changes due to the underlying genetic defect and the development of cataract and glaucoma. Opacity of the cornea as well as alterations of the cornea seem to be a major problem in the course of the disease.
authors.affiliation: Augenklinik der Ludwig-Maximilians-Universität, München. Guenther.Rudolph@ak-i.med.uni-muenchen.de
authors.forename: G
authors.initials: G
authors.lastname: Rudolph
authors.forename: P
authors.initials: P
authors.lastname: Kalpadakis
authors.forename: W
authors.initials: W
authors.lastname: Röschinger
authors.forename: C
authors.initials: C
authors.lastname: Haritoglou
authors.forename: S
authors.initials: S
authors.lastname: Kammerer
authors.forename: K-P
authors.initials: KP
authors.lastname: Boergen
authors.forename: A
authors.initials: A
authors.lastname: Kampik
mesh_terms: D000328:Adult; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D002387:Cataract Extraction; D003316:Corneal Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human