Fabry disease: a survey of visual and ocular symptoms
نویسندگان
چکیده
منابع مشابه
Fabry 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 کاملGastrointestinal Symptoms of Patients with Fabry Disease
In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4-70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults ...
متن کاملFabry disease, respiratory symptoms, and airway limitation - a systematic review.
BACKGROUND Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A, resulting in accumulation of glycosphingolipids in multiple organs, primarily heart, kidneys, skin, CNS, and lungs. MATERIALS AND METHOD A systematic literature search was performed using the PubMed database, leading to a total number of 154 hits. Due to language restriction, thi...
متن کاملParkinson's disease prevalence in Fabry disease: A survey study
Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from ...
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: Clinical Ophthalmology
سال: 2014
ISSN: 1177-5483
DOI: 10.2147/opth.s66748