Paediatric Fabry disease: prognostic significance of ocular changes for disease severity
نویسندگان
چکیده
منابع مشابه
Paediatric Fabry disease: prognostic significance of ocular changes for disease severity
BACKGROUND Ocular signs of Fabry disease can be seen in the first decade of life. METHODS 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). RESULTS At least one ocular...
متن کاملOcular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
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 op...
متن کاملFabry disease: a survey of visual and ocular symptoms
PURPOSE To evaluate a visual symptoms survey on patients with a known diagnosis of Fabry disease, and to compare the scores to those from a group of healthy subjects. MATERIALS AND METHODS An ocular symptom survey instrument was used to evaluate the symptoms of general ocular problems like itching, tearing, dryness, burning sensation, sensation of foreign body, difficulty in scotopic and phot...
متن کاملBasilar Artery Changes in Fabry Disease.
BACKGROUND AND PURPOSE Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease. MATERIALS AND METHODS Basilar artery mean diameter, curved length, "origin-to-end" li...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Ophthalmology
سال: 2016
ISSN: 1471-2415
DOI: 10.1186/s12886-016-0374-2