Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of epithelial corneal degeneration that was first seen as a pigmented plaque but changed to a whrol-like pattern and then partially regressed is described. The pathologic abnormality was an intra-cellular inclusion of lipid in the basal cells and of lipid and mucopolysaccharide in the wing and superficial cells. No duplication of basement membrane or thickening of Bowman's layer was present. It is suggested that despite different origins the pathologic entity in this case, in Fabry's disease and in chloroquine keratopathy is similar. The whorled pattern is due to a sliding of the corneal epithelial cells as they rise from the basal cells to the surface, much as a cyclonic flow forms about an atmospheric low in the southern hemisphere.
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PMID:Whorl-like degeneration of corneal epithelium a clinico-pathologic study. 14 16

A female carrier of Fabry's disease with neurological manifestations is presented. An elective ophthalmological examination revealed a whorl keratopathy suggesting that the patient may be a carrier of Fabry's disease. She subsequently suffered two brainstem ischemic events. Cranial MRI examination performed revealed evidence of multiple subcortical strokes and diffuse white matter disease in her frontal lobes. Biochemical analysis confirmed that this patient was a carrier of Fabry's disease. The cerebrovascular manifestations may be secondary to tissue variability of mutant enzyme activity.
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PMID:Cerebrovascular manifestations in a female carrier of Fabry's disease. 154 24

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.
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PMID:Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote. 393 20

Therapeutic administration of amiodarone, an antiarrhythmic drug, to eight patients resulted in the formation of vortex-like figures within the anterior cornea. Clinical examination disclosed no visual loss or other ocular abnormality attributable to the drug. In one patient, light and transmission electron microscopy of corneal epithelium, bulbar conjunctiva, and cataractous lens revealed complex lipid deposits within lysosome-like intracytoplasmic inclusions in corneal, conjunctival, and lens epithelium, conjunctival fibrocytes, and conjunctival vascular endothelium. Amiodarone keratopathy is compared clinically and morphologically with the corneal alterations seen in Fabry's disease and in chloroquine use as an example of a drug-induced lipid storage disorder.
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PMID:Amiodarone keratopathy: drug-induced lipid storage disease. 625 44

Among 37 patients treated with amiodarone, an antiarrhythmic drug, a typical keratopathy developed in 35, none of whom had ocular complaints. The keratopathy resembled that seen with Fabry's disease and chloroquine use, as did the membrane-bound lamellar bodies detected by electron microscopy in all layers of the corneal epithelium in the one patient with marked keratopathy in whom a corneal biopsy was performed; membrane-bound bodies, mostly granular, were also noted within this patient's stromal keratocytes. The possible pathogenesis of the keratopathy as a type of drug-induced lipidosis is discussed.
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PMID:Amiodarone-induced cornea verticillata. 711 20

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by accumulation of Gb-3 (globotriaosylceramide) in cellular lysosomes of tissues throughout the body. With advancing age, lysosomal Gb-3 accumulates in blood vessel walls, nerve cells, smooth muscle, and vital organs. Premature death commonly results from renal failure, heart attack, and stroke when the diagnosis is delayed or overlooked. One of the earliest and most distinctive physical features of FD is a whorl-like keratopathy. This finding is easily identifiable during a routine eye examination with a slit lamp, making eye care practitioners uniquely postured to identify patients and families with this incurable genetic disorder. Much of the pain, suffering, and adverse impact of FD can be avoided if an alert eye care expert sees the patient at an early age, identifies the condition, and makes the appropriate referral. The importance of obtaining a thorough medical history, ancestral health history, and review of systems to correlate ocular and systemic manifestations is emphasized. This report reviews the multisystem involvement of FD and describes the clinical characteristics and expected chronological appearance of ophthalmic and systemic manifestations. The discoveries of late-onset variants, increased prevalence, and modified inheritance pattern of FD are discussed. The profound therapeutic effects of recombinant enzyme replacement therapy (ERT) on multiple organ systems are detailed and demonstrated in a Fabry proband. Improved quality and quantity of life after initiation of ERT underscore the importance of early recognition and correlation of FD symptoms and clinical signs. Treatment strategies and the effectiveness of new adjunctive chaperone therapy are addressed.
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PMID:Fabry disease: a review of ophthalmic and systemic manifestations. 2333 11