Ocular signs in Fabry Disease

Abstract

Fabry disease is a rare, hereditary disease characterized by a deficiency of an enzyme, α galactosidase A (α gal A), responsible for progressive damage to many organs, leading to various symptomsn, Ocular damage, particularly to the cornea, is sometimes a precious element helping the positive diagnosis of the disease.We report the case of a 40-year-old patient diagnosed with Fabry disease, with bilateral conjunctival vascular toruosities , a "cornea verticillata and a peripheral cortical cataract. Better knowledge of ophthalmological signs, allows better screening and can participate in the evaluation of the effectiveness of substitute therapy. Keywords: α galactosidase A, cornea verticillata, hereditary, Farby disease