Objective: To reevaluate the ophthalmologic manifestations of Fabry disease (FD) following an improvement in the management of systemic complications.
Design: Cohort study.
Participants: Thirty-two hemizygous FD patients from 26 unrelated pedigrees were studied prior to enzyme replacement therapy with recombinant alpha-galactosidase A.
Methods: All patients underwent measurements of refractive error and visual acuity, and complete slit-lamp examination. Goldmann visual field was tested in 27 cases.
Results: The mean age of the patients was 37.0 +/- 12.8 years. The incidence of myopic eyes was 40.3%. Visual acuity of 20/20 was attained in 75.0% of eyes. Forty-four eyes presented with vascular abnormalities of the conjunctiva. A haze, observed in 54 eyes, was the most frequent corneal abnormality, while cornea verticillata was noted in only 28 eyes. Corneal involvement also included the presence of fine subepithelial brown lines detected in 18 eyes. Five patients had anterior cataract, always bilateral and usually associated with a posterior 'Fabry cataract'. The posterior lens opacities were also symmetrical and observed in 12 patients. A lens nuclear opalescence was noted in 19 patients. Retinal vascular tortuosity was observed in 18 patients. When tested, an enlargement of the blind spot was observed in 37.0% of the eyes, usually bilaterally.
Conclusions: Corneal involvement, especially haze, was the most constant manifestation. The frequency of cornea verticillata was less than expected from the literature. We suggest that the haze is the natural evolution of cornea verticillata. Vascular abnormalities of the conjunctiva and the retina were frequent. Enlargement of the blind spot could possibly be related to subclinical optic neuropathy.