Article
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.
The British journal of ophthalmology - 1 Jan 2016
van der Tol Linda, Sminia Marije L, Hollak Carla E M, Biegstraaten Marieke
Abstract excerpt
BACKGROUND: Screening for Fabry disease (FD) increasingly reveals individuals without characteristic features and with a variant of unknown significance in the α-galactosidase A (GLA) gene. Cornea verticillata (CV) assessment, as a characteristic sign of FD, may be a valuable diagnostic tool to assess whether these individuals have a non-classical phenotype or no FD at all. METHODS: We performed a systematic...
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