Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report.

Hasani Hewavitharana Eresha A Jasinge Hiranya Abeysekera Jithangi Wanigasinghe

Published in: BMC pediatrics (2020)

This is the first case of Fabry disease reported in Sri Lanka. Awareness of specific clinical features aided clinical diagnosis long before access to genetic confirmation was available.

Keyphrases

replacement therapy
hypertrophic cardiomyopathy
gene expression
copy number
left ventricular
atrial fibrillation