[Ocular motility disorders in a patient with Fabry's disease].
Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus with different wave forms and directions and blepharospasm as well as cornea verticillata.
Fiore
B
B
Augenklinik der Technischen Universität München, München, Deutschland. Bianca.Fiore@lrz.tum.de
Klopfer
M
M
Schwebig
C
C
Wiescher
A
A
Lanzl
I
I
D000328:Adult; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008297:Male; D015835:Ocular Motility Disorders / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy