Ocular manifestations of Fabry disease
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Abstract
Fabry disease is a X-linked lysosomal storage disorder.
Aim of the study: The aim was to document the ophthalmological manifestations of Fabry disease.
Material and methods: The study was conducted in a group of 12 patients (50% of male subjects); aged 14–63 years (mean 50.2). All patients underwent complete ophthalmologic examination.
Results: All patients reported normal intraocular pressure, and visual acuity. Changes in vessels of the conjunctiva were present in 4 males (66.7%) and 2 females (33.3%). Cornea verticillata appeared in 10 patients (83%): 5 men (83%) and 5 women (83%). Four males were diagnosed with posterior subcapsular cataract. Typical retinal changes were documented in all men and half of women.
Conclusions: Cornea verticillata was the most common symptom of ocular manifestation. More severe changes occurred in men.
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