title: Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote.
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: 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.
mesh_terms: D000328:Adult; D003315:Cornea / Q000473:pathology* / Q000648:ultrastructure; D004848:Epithelium / Q000648:ultrastructure; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree