Corneal changes in Fabry's disease: A clinico-pathologic case report of a heterozygote

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Abstract
Fabry's disease is an X-linked recessive inborn error of metabolism, caused by a deficiency of alpha galactosidase A. This report describes a heterozygote patient with multiple system problems diagnosed eventually as Fabry's disease by the ocular findings. The clinical diagnosis was confirmed by enzymatic assay. Our report emphasizes 1. The variability of the non-ocular manifestations in the heterozygote of Fabry's disease. 2. The diagnosis of Fabry's disease in our patient was made by the ophthalmologist. 3. The ultra-structural changes in the cornea and conjunctiva of the heterozygote confirm those reported in the literature; in addition we describe changes in the goblet cells. 4. The clinical and ultra-structural similarities of the deposits in Fabry's disease, Chloroquin keratopathy and Amiodarone keratopathy are striking and will be discussed.