A novel mutation and in vivo confocal microscopic findings in Fabry disease.
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.
Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey.
Cumali
C
Degirmenci
Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey.
Suzan Guven
SG
Yilmaz
Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.
Huseyin
H
Onay
Ege University Faculty of Medicine, Department of Ophthalmology, Izmir, Turkey.
Melis
M
Palamar
Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey.
Sema Kalkan
SK
Ucar
Ege University Faculty of Medicine, Department of Cardiology, Izmir, Turkey.
Meral
M
Kayikcioglu
Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey.
Mahmut
M
Coker
Cornea verticillata; Fabry disease; GLA gene; In vivo confocal microscopy; Mutation; R112L