{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T12:19:00Z","timestamp":1774959540067,"version":"3.50.1"},"reference-count":165,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,2,1]],"date-time":"2013-02-01T00:00:00Z","timestamp":1359676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2013,2,1]],"date-time":"2013-02-01T00:00:00Z","timestamp":1359676800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["OVS"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Fabry disease (FD) is an X\u2010linked lysosomal storage disorder caused by accumulation of Gb\u20103 (globotriaosylceramide) in cellular lysosomes of tissues throughout the body. With advancing age, lysosomal Gb\u20103 accumulates in blood vessel walls, nerve cells, smooth muscle, and vital organs. Premature death commonly results from renal failure, heart attack, and stroke when the diagnosis is delayed or overlooked. One of the earliest and most distinctive physical features of FD is a whorl\u2010like keratopathy. This finding is easily identifiable during a routine eye examination with a slit lamp, making eye care practitioners uniquely postured to identify patients and families with this incurable genetic disorder. Much of the pain, suffering, and adverse impact of FD can be avoided if an alert eye care expert sees the patient at an early age, identifies the condition, and makes the appropriate referral. The importance of obtaining a thorough medical history, ancestral health history, and review of systems to correlate ocular and systemic manifestations is emphasized. This report reviews the multisystem involvement of FD and describes the clinical characteristics and expected chronological appearance of ophthalmic and systemic manifestations. The discoveries of late\u2010onset variants, increased prevalence, and modified inheritance pattern of FD are discussed. The profound therapeutic effects of recombinant enzyme replacement therapy (ERT) on multiple organ systems are detailed and demonstrated in a Fabry proband. Improved quality and quantity of life after initiation of ERT underscore the importance of early recognition and correlation of FD symptoms and clinical signs. Treatment strategies and the effectiveness of new adjunctive chaperone therapy are addressed.<\/jats:p>","DOI":"10.1097\/opx.0b013e31827ec7eb","type":"journal-article","created":{"date-parts":[[2013,1,18]],"date-time":"2013-01-18T03:13:25Z","timestamp":1358478805000},"source":"Crossref","is-referenced-by-count":29,"title":["Fabry Disease"],"prefix":"10.1002","volume":"90","author":[{"given":"Melanie D.","family":"Sivley","sequence":"first","affiliation":[{"name":"School of Optometry University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,1]]},"reference":[{"key":"e_1_2_16_2_1","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1001\/archopht.1979.01020010327008","article-title":"The ocular manifestations in Fabry's disease","volume":"97","author":"Sher NA","year":"1979","journal-title":"Arch Ophthalmol"},{"key":"e_1_2_16_3_1","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.jbspin.2003.10.015","article-title":"Fabry disease: a review","volume":"71","author":"Masson C","year":"2004","journal-title":"Joint Bone Spine"},{"key":"e_1_2_16_4_1","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","article-title":"Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry","volume":"30","author":"Eng CM","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_16_5_1","unstructured":"BanikazemiM.Medscape Reference: Genetics of Fabry Disease. 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