The Importance of Molecular Testing for the Diagnosis of Fabry Disease Manifested by Cornea Verticillata Only

Aims: To describe a Fabry disease, that it’s diagnosis was only possible through the molecular test

Presentation of Case: L.A.P. female, 42 years old, lawyer, seen by the ophthalmology department for routine consultation only with refractive complaints. Fundus of the eye: Mild narrowing with increased vascular brightness and presence of pathological arteriovenous crossings. The rest of the exam was within normal limits.

Therefore, a genetic test with the dosage of the α-Gal enzyme was requested, which evidenced the alteration in it, confirming the diagnosis of Fabry disease.

Discussion: A Fabry Disease (FD) is an inborn error of glycosphingolipid (GL) metabolism, resulting from deficient activity of the enzyme alpha-galactosidase A (α -Gal). It has X-chromosome-linked inheritance, affecting mainly males, with an estimated prevalence of 1:40,000 males. The expression of the disease in heterozygous female patients can vary from an asymptomatic condition to a severe systemic disease, like that which occurs in men.

Conclusions: The ophthalmological examination played an important role in the diagnosis, as this change is highly suggestive of the disease, in order to avoid erroneous and late diagnoses that can cause consequences for patients with this condition.