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.
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.
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.