Ocular findings in Fabry disease in Colombian patients

Katherine Rothstein, Jubby M. Gálvez, ángela M. Gutiérrez, Laura Rico, Eveling Criollo, Alejandra de-la-Torre

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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 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.

Original languageEnglish (US)
Pages (from-to)434-439
Number of pages6
JournalBiomedica
Volume39
Issue number3
DOIs
StatePublished - 2019

All Science Journal Classification (ASJC) codes

  • General Biochemistry, Genetics and Molecular Biology

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