TY - JOUR
T1 - Ocular findings in Fabry disease in Colombian patients
AU - Rothstein, Katherine
AU - Gálvez, Jubby M.
AU - Criollo Porras, Eveling Briggite
AU - Gutiérrez, Ángela M.
AU - Rico Landazabal, Laura del Pilar
AU - de-la-Torre, Alejandra
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Fabry disease is a rare X-linked disorder caused by alpha-galactosidase enzyme deficiency, which leads to a progressive lisosomal 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 in order to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, 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.
AB - Fabry disease is a rare X-linked disorder caused by alpha-galactosidase enzyme deficiency, which leads to a progressive lisosomal 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 in order to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, 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.
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U2 - https://doi.org/10.7705/biomedica.3841
DO - https://doi.org/10.7705/biomedica.3841
M3 - Research Article
AN - SCOPUS:85067593635
SN - 0120-4157
VL - 39
SP - 434
EP - 439
JO - Biomedica
JF - Biomedica
IS - 3
ER -