A novel mutation and in vivo confocal microscopic findings in Fabry disease
Articles > Article · 2017
Authors: Cumali DEĞİRMENCİ, Suzan GÜVEN, HÜSEYİN ONAY, Melis PALAMAR ONAY, Sema KALKAN UÇAR, Latife Meral KAYIKÇIOĞLU, Mahmut ÇOKER
SAUDI JOURNAL OF OPHTHALMOLOGY, Journal Indexed in SCI Expanded, International, 2017, vol 31, pp 45-47
DOI: 10.1016/j.sjopt.2016.12.005
Summary
Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.