Paediatric Fabry disease : prognostic significance of ocular changes for disease severity
Kalkum, Gisela (Department of Paediatrics, Helios-Dr-Horst-Schmidt-Kliniken HSK, Ludwig-Erhard-Strasse 100, 65199 Wiesbaden, Germany)
Pitz, Susanne (Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany)
Karabul, Nesrin (Department of Neuropaediatrics and Inborn Metabolic Disorders (Metabolicum Ruhr), University Children's Hospital, Centre for Rare Diseases, Ruhr University Bochum, Bochum, Germany)
Beck, Michael (Institute of Human Genetics, University Medical Centre, Johannes Gutenberg University, Mainz, Germany)
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Parini, Rossella (Ospedale San Gerardo (Itàlia))
Rohrbach, Marianne (Division of Metabolism, University Children's Hospital, Children's Research Centre, Zurich, Switzerland)
Bizjajeva, Svetlana (Shire, Zug, Switzerland)
Ramaswami, Uma (Lysosomal Disorders Unit, Royal Free London Hospitals NHS Foundation Trust, London, UK)
Universitat Autònoma de Barcelona

Fecha:	2016
Resumen:	Ocular signs of Fabry disease can be seen in the first decade of life. We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). At least one ocular sign was found in 55/101 (54. 5%) girls and 62/131 (47. 3%) boys: cornea verticillata in 53/101 (52. 5%) girls and 55/131 (42. 0%) boys, vessel tortuosity in 17/98 (17. 3%) girls and 32/131 (24. 4%) boys, and posterior spoke-like lens opacities in 3/97 (3. 1%) girls and 2/130 (1. 5%) boys. Summary statistics showed higher median (range) age-adjusted FOS-MSSI total score indicating more severe disease in children with eye findings versus those without eye findings (0. 5 [−11. 0, 20. 7] versus −2. 3 [−11. 1, 18. 8]). At least one eye finding was observed in 59. 1% of treated and 37. 9% of untreated children. We conclude that the presence of ocular signs, particularly cornea verticillata, correlates with more severe disease as indicated by FOS-MSSI scores in paediatric patients with Fabry disease. Ocular signs appear in roughly half of school-aged children with Fabry disease and are well-recognised as a valuable tool for diagnosis of Fabry disease in children; they also may help identify patients who are at risk for developing early severe manifestations of Fabry disease and who should be further evaluated and closely followed up. The online version of this article (doi:10. 1186/s12886-016-0374-2) contains supplementary material, which is available to authorized users.
Nota:	Altres ajuts: Medical writing support was provided by Margit Rezabek, DVM, PhD, of Excel Scientific Solutions and was funded by Shire. Shire was given the opportunity to review the manuscript.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Agalsidase alfa ; Children ; Fabry disease ; Fabry Outcome Survey ; Ocular signs
Publicado en:	BMC ophthalmology, Vol. 16 (november 2016) , ISSN 1471-2415

DOI: 10.1186/s12886-016-0374-2
PMID: 27852300

7 p, 568.2 KB

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