Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A. Ocular findings, such as cornea verticillata, cataracts, and retinal vascular tortuosity, serve as important diagnostic markers.
Thus, presence of CV in an individual with an uncertain diagnosis of FD indicates a pathogenic GLA variant, in the absence of medication that may induce CV; if CV is absent, FD cannot be excluded.
The 3 patients with residual alpha-galactosidase A activity > or =1.5% of normal values were free ofcornea verticillata and had normal serum and urinary globotriaosylceramide levels.