Retinal hyperreflective foci in Fabry disease
نویسندگان
چکیده
منابع مشابه
Choroidal hyperreflective foci in Stargardt disease shown by spectral-domain optical coherence tomography imaging: correlation with disease severity.
IMPORTANCE The presence of choroidal hyperreflective foci in Stargardt disease is, to our knowledge, a potentially new finding. Evaluation of these foci may aid in better understanding of the disease process. OBJECTIVES To report the presence of choroidal hyperreflective foci in spectral-domain optical coherence tomography (SD-OCT) images from eyes with Stargardt disease and investigate the r...
متن کاملNephropathy in Fabry disease and iatrogenic phospholipidosis mimicking Fabry disease
Fabry disease is a rare X-linked inborn error of the glycosphingolipid metabolism caused by deficient activity of lysosomal enzyme alpha-galactosidase A. It is characterized by progressive multisystemic involvement that leads to premature death due to major organ failure, particularly the kidneys and heart. It appears that the disease is underdiagnosed in patients with end-stage renal disease. ...
متن کاملIntraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa
BACKGROUND The purpose of this study was to observe the characteristic findings of spectral-domain optical coherence tomography (SD-OCT) images in the retinas of patients with retinitis pigmentosa and to evaluate their distribution patterns in the early and advanced stages of the disease. METHODS A total of 184 patients (368 eyes) with retinitis pigmentosa were observed using SD-OCT. We studi...
متن کاملFabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteris...
متن کاملPodocyturia in Fabry disease.
INTRODUCTION Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene (Xq22). Such changes result in the reduction/absence of activity of the lysosome enzyme α-GAL, whose function is to metabolize globotriaosylceramide (Gb3). Renal disease is a major clinical outcome of the accumulation of Gb3. Podocyte injury is thought to be a major contributor to the progressive los...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2019
ISSN: 1750-1172
DOI: 10.1186/s13023-019-1267-2