Fabry Disease: A Atypical Presentation.

Fabry Disease (FD) is a rare X-linked recessive disease caused by mutations in the GLA gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl A. This lysosomal storage disorder results in progressive damage and dysfunction of several organs and, depending on the type of mutation and gender of the patient, and it may have different manifestations. As FD is a multisystem disease with a progressive character and varying severity, the diagnosis can be challenging, especially when it comes to non-classical forms.

Cytomegalovirus Retinitis as a Sole Manifestation of HIV Infection.

Retinitis is the most frequent manifestation of Cytomegalovirus (CMV) disease in patients with HIV infection. The virus reaches the retina by hematogenous spread, therefore patients with serum CMV load are at increased risk of developing CMV retinitis. The evolution of retinitis without specific treatment causes irreversible visual loss.