Ocular Signs Correlate Well with Disease Severity and Genotype in XXXX .

@entity1 @entity267 @entity231 @entity25005 @entity2314
UNASSIGNED: Ocular signs in @entity2314 have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the a-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult @entity1 who had undergone ophthalmological examination. Three ocular signs were assessed: @entity267 , tortuous conjunctival and/or retinal vessels, and @entity231 . @entity2314 severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult @entity1 with eye findings characteristic of @entity2314 in 55.1%. @entity267 had a similar distribution in @entity1 (51.1%) and @entity1 (50.8%), whereas tortuous vessels and @entity231 were somewhat more frequent in @entity1 than in @entity1 . @entity1 with @entity267 , selected as the principal ocular sign for this study, had more severe disease (median score, 20.0) versus those without ocular signs (11.0; P<0.001). This finding could be confirmed by applying age adjusted severity scores. Moreover, the prevalence of @entity267 was significantly higher in @entity1 with null (male, 76.9%; female, 64.5%) and missense (male, 79.2%; female, 67.4%) mutations versus mild missense (male, 17.1%; female, 23.1%) and the @entity25005 (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in @entity2314 and disease severity. Consequently, information on ocular findings and a-galactosidase A gene mutation may help assess the risk for more severe @entity2314 . These observed findings are of notable clinical importance, as @entity2314 is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual @entity1 level. Further confirmatory studies are needed.
