Gutenberg Open Science: Ocular signs correlate well with disease severity and genotype in Fabry disease

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-7582

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DC Field	Value	Language
dc.contributor.author	Pitz, Susanne	-
dc.contributor.author	Kalkum, Gisela	-
dc.contributor.author	Arash, Laila	-
dc.contributor.author	Karabul, Nesrin	-
dc.contributor.author	Sodi, Andrea	-
dc.contributor.author	Larroque, Sylvain	-
dc.contributor.author	Beck, Michael	-
dc.contributor.author	Gal, Andreas	-
dc.date.accessioned	2022-08-19T10:13:43Z	-
dc.date.available	2022-08-19T10:13:43Z	-
dc.date.issued	2015
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/7596	-
dc.description.abstract	Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-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 patients who had undergone ophthalmological examination. Three ocular signs were assessed: cornea verticillata, tortuous conjunctival and/or retinal vessels, and cataract. Fabry disease severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult patients with eye findings characteristic of Fabry disease in 55.1%. Cornea verticillata had a similar distribution in women (51.1%) and men (50.8%), whereas tortuous vessels and Fabry cataract were somewhat more frequent in men than in women. Patients with cornea verticillata, 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 cornea verticillata was significantly higher in patients 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 p.N215S (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in Fabry disease and disease severity. Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the risk for more severe Fabry disease. These observed findings are of notable clinical importance, as Fabry disease is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual patient level. Further confirmatory studies are needed.	en_GB
dc.description.sponsorship	DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin	de
dc.language.iso	eng	de
dc.rights	CC BY	*
dc.rights.uri	https://creativecommons.org/licenses/by/4.0/	*
dc.subject.ddc	610 Medizin	de_DE
dc.subject.ddc	610 Medical sciences	en_GB
dc.title	Ocular signs correlate well with disease severity and genotype in Fabry disease	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-7582	-
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 04 Medizin	de
jgu.organisation.number	2700	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	PLoS one	de
jgu.journal.volume	10	de
jgu.journal.issue	3	de
jgu.pages.alternative	e0120814	de
jgu.publisher.year	2015	-
jgu.publisher.name	PLoS	de
jgu.publisher.place	Lawrence, Kan.	de
jgu.publisher.uri	http://dx.doi.org/10.1371/journal.pone.0120814	de
jgu.publisher.issn	1932-6203	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	610	de
opus.date.modified	2018-09-05T09:15:17Z
opus.subject.dfgcode	00-000
opus.organisation.string	FB 04: Medizin: Augenklinik und Poliklinik	de_DE
opus.organisation.string	FB 04: Medizin: Zentrum für Kinder- und Jugendmedizin	de_DE
opus.identifier.opusid	51984
opus.institute.number	0446
opus.institute.number	0462
opus.metadataonly	false
opus.type.contenttype	Keine	de_DE
opus.type.contenttype	None	en_EN
opus.affiliated	Pitz, Susanne
opus.affiliated	Beck, Michael
jgu.publisher.doi	10.1371/journal.pone.0120814	de
jgu.organisation.ror	https://ror.org/023b0x485	-
Appears in collections:	DFG-OA-Publizieren (2012 - 2017)

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