Paediatric Fabry disease: Prognostic significance of ocular changes for disease severity

Gisela Kalkum, Susanne Pitz, Nesrin Karabul, Michael Beck, Guillem Pintos-Morell, Rossella Parini, Marianne Rohrbach, Svetlana Bizjajeva, Uma Ramaswami

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16 Citations (Scopus)


© 2016 The Author(s). Background: Ocular signs of Fabry disease can be seen in the first decade of life. Methods: 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). Results: 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. Conclusions: 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.
Original languageEnglish
Article number202
JournalBMC Ophthalmology
Issue number1
Publication statusPublished - 16 Nov 2016


  • Agalsidase alfa
  • Children
  • Fabry Outcome Survey
  • Fabry disease
  • Ocular signs


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