کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4033137 | 1603050 | 2008 | 8 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Ocular Features of Fabry Disease: Diagnosis of a Treatable Life-threatening Disorder Ocular Features of Fabry Disease: Diagnosis of a Treatable Life-threatening Disorder](/preview/png/4033137.png)
Fabry disease is a rare, life-threatening, and under-diagnosed disease, with distinctive ocular manifestations identifiable during a routine eye examination. The disease is caused by an inherited deficiency of the lysosomal enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids throughout the body. Long-term clinical manifestations include renal failure, early stroke, and cardiomyopathy. Recently, enzyme-replacement treatment has become available, heightening the importance of early diagnosis so that treatment can be initiated before irreversible organ damage. Ocular manifestations of Fabry disease include cornea verticillata (whorl-like radial lines emanating from a single vortex, visible on slit-lamp examination), distinctive lenticular opacities, and vascular tortuosity of the conjunctiva and retina. A heightened awareness of Fabry disease among ocular professionals could greatly reduce diagnostic delays and thus reduce the morbidity and mortality of the disease.
Journal: Survey of Ophthalmology - Volume 53, Issue 4, July–August 2008, Pages 416–423