{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T21:55:15Z","timestamp":1766181315702},"reference-count":19,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"3","content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["biomedica"],"abstract":"<jats:p>Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye.This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment.We describe five cases of Fabry disease from Bogot\u00e1, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.<\/jats:p>","DOI":"10.7705\/biomedica.3841","type":"journal-article","created":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T15:56:41Z","timestamp":1570118201000},"page":"434-439","update-policy":"http:\/\/dx.doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":5,"title":["Ocular findings in Fabry disease in Colombian patients"],"prefix":"10.7705","volume":"39","author":[{"given":"Katherine","family":"Rothstein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jubby M.","family":"G\u00e1lvez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngela M.","family":"Guti\u00e9rrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Rico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eveling","family":"Criollo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra","family":"De-la-Torre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2019,9,1]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. https:\/\/doi.org\/10.1186\/1750-1172-5-30","DOI":"10.1186\/1750-1172-5-30"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M, Pitz S. Ocular manifestations of Fabry's disease: Data from the Fabry Outcome Survey. Br J Ophthalmol. 2007;91:210-4. https:\/\/doi.org\/10.1136\/bjo.2006.100602","DOI":"10.1136\/bjo.2006.100602"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A. Ophthalmological manifestations of Fabry disease: A survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol. 2005;33:164-8. https:\/\/doi.org\/10.1111\/j.1442-9071.2005.00990.x","DOI":"10.1111\/j.1442-9071.2005.00990.x"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Samiy N. Ocular features of Fabry disease: Diagnosis of a treatable life-threatening disorder. Surv Ophthalmol. 2008;53:416-23. https:\/\/doi.org\/10.1016\/j.survophthal.2008.04.005","DOI":"10.1016\/j.survophthal.2008.04.005"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced fabry disease: A randomized trial. Ann Intern Med. 2007;146:77-86. https:\/\/doi.org\/10.7326\/0003-4819-146-2-200701160-00148","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr. 2009;168:1355-63. https:\/\/doi.org\/10.1007\/s00431-009-0937-9","DOI":"10.1007\/s00431-009-0937-9"},{"key":"ref6","unstructured":"Marci M, Duro G, Tuttolomondo A, Pinto A, Cirrincione V, Sanfilippo N. Delayed diagnosis of Fabry disease presenting as myocardial ischaemia. Hellenic J Cardiol. 2012;53:77-9."},{"key":"ref7","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1097\/00003226-200103000-00028","article-title":"Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease","volume":"20","author":"Hirano","year":"2001","unstructured":"Hirano K, Murata K, Miyagawa A, Terasaki H, Saigusa J, Nagasaka T, et al. Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease. Cornea. 2001;20:233-6.","journal-title":"Cornea"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"Sher NA, Reiff W, Letson RD, Desnick RJ. Central retinal artery occlusion complicating Fabry's disease. Arch Ophthalmol. 1978;96:815-7. https:\/\/doi.org\/10.1001\/archopht.1978.03910050421003","DOI":"10.1001\/archopht.1978.03910050421003"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Hauser AC, Lorenz M, Voigtl\u00e4nder T, F\u00f6dinger M, Sunder-Plassmann G. 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