By | May 30, 2016|

Fabry disease is a rare genetic disorder, but one of its hallmark signs is easily visible in the cornea during a routine exam. Doctors of optometry who are able to diagnose this often overlooked disease can help patients receive critical treatment.

Fabry disease, which is estimated to occur in 1 in 40,000 live births, is a lysosomal storage disorder in which the enzyme that normally breaks down a particular fatty substance called globotriaosylceramide is defective… [American Optometric Association]

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