Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.

ABSTRACT:

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 sev

SUBMITTER: Kalkum G 

PROVIDER: S-EPMC5112699 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature