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Susanne Pitz - One of the best experts on this subject based on the ideXlab platform.

  • Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.
    BMC Ophthalmology, 2016
    Co-Authors: Gisela Kalkum, Susanne Pitz, Nesrin Karabul, Michael Beck, Guillem Pintos-morell, Rossella Parini, Marianne Rohrbach, Svetlana Bizjajeva, Uma Ramaswami
    Abstract:

    Ocular signs of Fabry disease can be seen in the first decade of life. 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). 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. 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.

  • Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
    PLOS ONE, 2015
    Co-Authors: Susanne Pitz, Andrea Sodi, Gisela Kalkum, Laila Arash, Nesrin Karabul, Sylvain Larroque, Michael Beck
    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

  • Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2011
    Co-Authors: Joanna Wasielica-poslednik, Norbert Pfeiffer, Jörg Reinke, Susanne Pitz
    Abstract:

    Background The aim of this work is to compare the microstructure of Cornea Verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM). Methods Ten eyes of ten patients suffering from Fabry disease, six eyes of six patients with amiodarone-induced keratopathy and eight eyes of healthy control subjects were examined by conventional slit-lamp microscopy and CLSM. One Fabry patient received amiodarone therapy. All Fabry patients were under enzyme replacement therapy with agalsidase alfa. Results Seven out of ten Fabry patients and all patients receiving amiodarone showed typical Cornea Verticillata on slit-lamp examination. CLSM revealed hyper-reflective intracellular inclusions in basal epithelial cells of all Fabry patients with Cornea Verticillata and in one Fabry patient without slit-lamp-detectable vortex keratopathy, as well as in all eyes featuring amiodarone keratopathy. Amiodarone deposits were more reflective and of grossly different size. Seven Fabry patients and all amiodarone patients had stromal microdots. Two amiodarone patients showed amiodarone inclusions in the endothelium. The number of CLSM changes in Fabry patients did not correlate with that of slit-lamp detectable Cornea Verticillata. Conclusions While Fabry-induced Cornea Verticillata and amiodarone keratopathy cannot be distinguished by conventional slit-lamp microscopy, CLSM allows the differentiation between both etiologies in the majority of patients. CLSM appears to reveal Corneal changes prior to the detection of Cornea Verticillata on slit-lamp microscopy and may thus be helpful in the early diagnosis of Fabry disease. CLSM does not allow quantitative monitoring of Corneal changes in Fabry patients under enzyme-replacement therapy.

  • Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy
    Graefes Archive for Clinical and Experimental Ophthalmology, 2011
    Co-Authors: Joanna Wasielica-poslednik, Norbert Pfeiffer, Jörg Reinke, Susanne Pitz
    Abstract:

    Background The aim of this work is to compare the microstructure of Cornea Verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM).

  • Subclinical optic neuropathy in Fabry disease
    Ophthalmic Genetics, 2009
    Co-Authors: Susanne Pitz, Kathrin Grube-einwald, Giulia Renieri, Jörg Reinke
    Abstract:

    Background: Fabry disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of α-galactosidase A. Ophthalmic features comprise a Cornea Verticillata, conjunctival aneurysms, tortuous conjunctival and/or retinal vessels, and anterior and posterior subcapsular cataracts. The issue of a possible subclinical optic neuropathy in Fabry disease has been raised recently. In this pilot study, we looked for signs of optic neuropathy in our cohort of Fabry patients.Methods: Thirty-one Fabry patients (15 male, 16 female, mean age 34 years) underwent an ophthalmological investigation consisting of assessment of best corrected visual acuity, slit lamp investigation, testing of pupillary reaction, funduscopy, applanation tonometry, and automated perimetry (Humphrey 30-2). Twenty-nine patients received enzyme replacement therapy with agalsidase alpha (Replagal).Results: Twenty-five of thirty-one patients showed the typical Cornea Verticillata, tortuous vessels were seen in 17. Two patients exhibited...

Rudolf F Guthoff - One of the best experts on this subject based on the ideXlab platform.

Joanna Wasielica-poslednik - One of the best experts on this subject based on the ideXlab platform.

  • Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2011
    Co-Authors: Joanna Wasielica-poslednik, Norbert Pfeiffer, Jörg Reinke, Susanne Pitz
    Abstract:

    Background The aim of this work is to compare the microstructure of Cornea Verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM). Methods Ten eyes of ten patients suffering from Fabry disease, six eyes of six patients with amiodarone-induced keratopathy and eight eyes of healthy control subjects were examined by conventional slit-lamp microscopy and CLSM. One Fabry patient received amiodarone therapy. All Fabry patients were under enzyme replacement therapy with agalsidase alfa. Results Seven out of ten Fabry patients and all patients receiving amiodarone showed typical Cornea Verticillata on slit-lamp examination. CLSM revealed hyper-reflective intracellular inclusions in basal epithelial cells of all Fabry patients with Cornea Verticillata and in one Fabry patient without slit-lamp-detectable vortex keratopathy, as well as in all eyes featuring amiodarone keratopathy. Amiodarone deposits were more reflective and of grossly different size. Seven Fabry patients and all amiodarone patients had stromal microdots. Two amiodarone patients showed amiodarone inclusions in the endothelium. The number of CLSM changes in Fabry patients did not correlate with that of slit-lamp detectable Cornea Verticillata. Conclusions While Fabry-induced Cornea Verticillata and amiodarone keratopathy cannot be distinguished by conventional slit-lamp microscopy, CLSM allows the differentiation between both etiologies in the majority of patients. CLSM appears to reveal Corneal changes prior to the detection of Cornea Verticillata on slit-lamp microscopy and may thus be helpful in the early diagnosis of Fabry disease. CLSM does not allow quantitative monitoring of Corneal changes in Fabry patients under enzyme-replacement therapy.

  • Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy
    Graefes Archive for Clinical and Experimental Ophthalmology, 2011
    Co-Authors: Joanna Wasielica-poslednik, Norbert Pfeiffer, Jörg Reinke, Susanne Pitz
    Abstract:

    Background The aim of this work is to compare the microstructure of Cornea Verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM).

Karen Falke - One of the best experts on this subject based on the ideXlab platform.

Norbert Pfeiffer - One of the best experts on this subject based on the ideXlab platform.

  • Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2011
    Co-Authors: Joanna Wasielica-poslednik, Norbert Pfeiffer, Jörg Reinke, Susanne Pitz
    Abstract:

    Background The aim of this work is to compare the microstructure of Cornea Verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM). Methods Ten eyes of ten patients suffering from Fabry disease, six eyes of six patients with amiodarone-induced keratopathy and eight eyes of healthy control subjects were examined by conventional slit-lamp microscopy and CLSM. One Fabry patient received amiodarone therapy. All Fabry patients were under enzyme replacement therapy with agalsidase alfa. Results Seven out of ten Fabry patients and all patients receiving amiodarone showed typical Cornea Verticillata on slit-lamp examination. CLSM revealed hyper-reflective intracellular inclusions in basal epithelial cells of all Fabry patients with Cornea Verticillata and in one Fabry patient without slit-lamp-detectable vortex keratopathy, as well as in all eyes featuring amiodarone keratopathy. Amiodarone deposits were more reflective and of grossly different size. Seven Fabry patients and all amiodarone patients had stromal microdots. Two amiodarone patients showed amiodarone inclusions in the endothelium. The number of CLSM changes in Fabry patients did not correlate with that of slit-lamp detectable Cornea Verticillata. Conclusions While Fabry-induced Cornea Verticillata and amiodarone keratopathy cannot be distinguished by conventional slit-lamp microscopy, CLSM allows the differentiation between both etiologies in the majority of patients. CLSM appears to reveal Corneal changes prior to the detection of Cornea Verticillata on slit-lamp microscopy and may thus be helpful in the early diagnosis of Fabry disease. CLSM does not allow quantitative monitoring of Corneal changes in Fabry patients under enzyme-replacement therapy.

  • Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy
    Graefes Archive for Clinical and Experimental Ophthalmology, 2011
    Co-Authors: Joanna Wasielica-poslednik, Norbert Pfeiffer, Jörg Reinke, Susanne Pitz
    Abstract:

    Background The aim of this work is to compare the microstructure of Cornea Verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM).