Search results for "Cornea verticillata"

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

2003

Fabry disease (FD) is a debilitating progressive multisystem X-linked lysosomal storage disorder. It was generally believed that the disease affects only adult males. Through systematic pedigree analysis, we identified 35 paediatric FD patients (age 1 to 21 years, mean 12.6 years) in 25 families. Predominant signs in this cohort were: acroparesthesia, hypohidrosis, and cornea verticillata. Neurological and psychological changes, such as tinnitus, recurrent vertigo, headache, diminished level of activity, fatigue, and depression were often observed. Angiokeratoma and gastrointestinal symptoms were frequent. Some patients also showed cardiac abnormalities. Six children and adolescents (three …

Subclinical optic neuropathy in Fabry disease.

2009

Fabry disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of alpha-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.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, fu…

Hornhaut-Schlüsselbefunde im Kindesalter als Hinweis für therapierbare systemische Stoffwechselerkrankungen

2013

Es gibt eine Reihe von systemischen lysosomalen Stoffwechselerkrankungen, bei denen bereits im Kindesalter krankheitsspezifische Hornhauttrubungen zu beobachten sind. Unter Lysosomen verstehen wir winzige Zellorganellen, die vom Golgi-Apparat gebildet werden. Sie enthalten verschiedene hydrolytische Enzyme und Phosphatasen, womit Fremdstoffe oder korpereigene Stoffe verdaut werden konnen. Die richtige Einordnung der Hornhautveranderung durch den Augenarzt an der Spaltlampe kann zur richtigen Diagnose der jeweiligen systemischen Stoffwechselerkrankung fuhren. Eine moglichst fruhe Diagnosestellung ist aktuell besonders bedeutend, da heute einem Grosteil der Patienten mit einer Speicherkrankhe…

Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases

2017

Aims To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. Methods 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA…

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

2004

Background  Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. In response to the recent introduction of enzyme replacement therapy, the Fabry Outcome Survey (FOS) was established to pool data from European clinics on the natural history of this little-known disease and to monitor the long-term efficacy and safety of treatment. This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured. De…

Novel alpha-galactosidase A mutation in a female with recurrent strokes.

2012

Abstract Anderson–Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-causing alpha-galactosidase A mutations have been identified, including missense mutations, small deletions/insertions, splice mutations, and large gene rearrangements We report a case of a 56-year-old woman with recurrent cryptogenic strokes. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels.…

2015

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, …