Several functional and fluorescein fundus angiographic findings in Fabry's disease

Fabry's disease has well-known characteristic morphological findings, i.e., the whorl-like corneal opacity and the posterior spoke-like cataract, etc. But its functional aspect has not been investigated fully. Thus, a 47-year-old male with Fabry's disease was examined with Cochet-Bonnet's esthesiometer, photokeratometry, ultrasonography, electropupillography, electroretinography, electro-oculography and fluorescein fundus angiography. Most of functional findings remained normal in spite of corneal opacity, cataract, retinal and conjunctival vascular tortuosity, choroidal vascular disturbance and delayed retinal circulation time. We discuss the reasons why significant functional disturbance has not developed.