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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

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: The variability of the non-ocular manifestations in the heterozygote of Fabry's disease. The diagnosis of Fabry's disease in our patient was made by the ophthalmologist. 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. The clinical and ultra-structural similarities of the deposits in Fabry's disease, Chloroquin keratopathy and Amiodarone keratopathy are striking and will be discussed.[1]


  1. Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote. Macrae, W.G., Ghosh, M., McCulloch, C. Ophthalmic paediatrics and genetics. (1985) [Pubmed]
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