Ocular signs correlate well with disease severity and genotype in Fabry disease

PloS One
Susanne PitzA Gal

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 c...Continue Reading

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Citations

Nov 18, 2016·BMC Ophthalmology·Gisela KalkumUma Ramaswami
May 14, 2017·The British Journal of Ophthalmology·Melanie D SivleyWilliam J Benjamin
Dec 19, 2018·Postgraduate Medical Journal·Tereza CairnsChristoph Wanner
Oct 5, 2019·Biomédica : revista del Instituto Nacional de Salud·Katherine RothsteinAlejandra De-la-Torre
Nov 2, 2019·The British Journal of Ophthalmology·Melanie D Sivley, William J Benjamin
Jun 30, 2019·Scientific Reports·James J MillerIris S Kassem
Dec 28, 2019·Orphanet Journal of Rare Diseases·Yevgeniya AtiskovaSimon Dulz
Jul 2, 2020·International Ophthalmology·Ayse Idil CakmakFaruk Hilmi Turgut
Mar 10, 2016·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·V BesgenY Wenner
Jun 18, 2016·Clinical & Experimental Ophthalmology·Dipika V Patel
Jun 27, 2020·European Journal of Ophthalmology·Matteo PrencipeGiovanna Gabbriellini
Jan 25, 2021·Experimental Eye Research·Ruchi ShahAlexander V Ljubimov
Mar 18, 2021·Scientific Reports·Martin WeberBaris Bingol
May 6, 2021·International Journal of Molecular Sciences·Jingfang BianThomas Chuen Lam

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Methods Mentioned

BETA
enzyme replacement therapy
glycosylation

Software Mentioned

SAS

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