Pérez-Velarde J, Duarte-Iribe N, Álvarez-Villarreal A

Language: Spanish
References: 18
Page: 59-65
PDF size: 217.08 Kb.

ABSTRACT

Fabry disease (FD) is a rare, X-linked, recessive disorder of glycosphingolipid metabolism, resulting from a deficiency in alpha-galactosidase A (α-GalA) hydrolase caused to a variant of the GLA gene, ocurring as a multisystemic affection and producing organ dysfunction. The most typical ocular involvement of FD is the cornea verticillate. We report the case of a 34-year-old patient recently diagnosed with FD. An ophthalmological evaluation was performed prior to the start of enzyme replacement therapy (ERT). As a finding, cornea verticillate was found in the left eye and tortuosity of the conjunctival in both eyes, both of them showed regression three months after ERT with alpha galactosidase.

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