A novel mutation and in vivo confocal microscopic findings in Fabry disease

Cumali Degirmenci; Suzan Guven Yilmaz; Huseyin Onay; Melis Palamar; Sema Kalkan Ucar; Meral Kayikcioglu; Mahmut Coker

doi:10.1016/j.sjopt.2016.12.005

A novel mutation and in vivo confocal microscopic findings in Fabry disease

Saudi J Ophthalmol. 2017 Jan-Mar;31(1):45-47. doi: 10.1016/j.sjopt.2016.12.005. Epub 2017 Jan 3.

Authors

Cumali Degirmenci¹, Suzan Guven Yilmaz¹, Huseyin Onay², Melis Palamar¹, Sema Kalkan Ucar³, Meral Kayikcioglu⁴, Mahmut Coker³

Affiliations

¹ Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey.
² Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.
³ Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey.
⁴ Ege University Faculty of Medicine, Department of Cardiology, Izmir, Turkey.

Abstract

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.

Keywords: Cornea verticillata; Fabry disease; GLA gene; In vivo confocal microscopy; Mutation; R112L.