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D.A. Bar, P.C. Holzman, H. Amartino, N. Chamoles, P.S. Cremonini, J.A. Badia; Ocular Manifestations of Fabry Disease. Findings After Two Years of Enzymatic Replacement Therapy . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5825.
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To evaluate changes in ocular manifestations in patients with Fabry disease (FD) treated with enzymatic replacement therapy with Alfa galactosidasa A (Fabrazyme).
Prospective study. We performed a systematic evaluation of six hemizygous male patients with diagnosis of Fabry disease. All belonged to five different families. The first evaluation was performed in 2001, previous to enzymatic replacement treatment, and the second evaluation was performed in 2004, after completion two years of enzymatic replace therapy with Fabrazyme ® was completed. All patients underwent complete ocular examination that included: best corrected visual acuity, biomicroscopy, Goldman tonometry and fundus examination with indirect ophthalmoscopy.
None of our cases presented changes of visual acuity (all 20/20 with exception of one case with 20/25 due to high myopia) or intraocular pressure. We found one case of conjunctival vascular tortuosity that remained unchanged after therapy. All of our patients showed some degree of corneal opacities after treatment (100%), and only 4 did before treatment (66.6%). We found also an increase in the incidence of star shaped cataract, being 100% after treatment and only 33.3% before treatment. Incidence of retinal vascular tortuosity remained unchanged (66.6%). This cataract is only a finding but it does not cause any visual manifestations. We did not find any cases of vascular obstruction, characteristic of this disease, which can cause permanent visual damage.
All of our patients referred improvement in systemic manifestations.
The replacement enzymatic therapy in patients with Fabry Disease is the only treatment available for this patients. Even tough systemic symptoms of the disease improved after enzymatic replacement treatment, we found an increase in the incidence of ocular manifestations. In our series, we found a triplication of the incidence of star shaped cataract, patognomonic of this disease. It is important to state that none of the ocular findings causes any kind of visual disturbances.
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