1/4. Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease.PURPOSE: To report the histopathologic findings of the cornea verticillata observed in a woman who was heterozygous for Fabry's disease. METHOD: A 67-year-old woman was found to have a whorl-like corneal opacity on her visit to the Department of ophthalmology. Aichi Saiseikai Hospital. Her visit was because of a sudden loss of vision in her right eye owing to a central retinal artery occlusion in association with an ophthalmic artery occlusion. The patient died suddenly of an acute heart failure; with family consent, an autopsy was performed and the right eye was removed for histopathologic examination by light and electron microscopy. RESULTS: Low levels of alpha-galactosidase in the leukocytes together with the corneal finding led to the diagnosis of heterozygous Fabry's disease. light microscopy revealed a 0.3- to 0.5-microm thick layer between the epithelial and Bowman's layers. Oil red O positive deposits were accumulated in the subepithelial layer, and the density varied in different regions. Electron microscopy showed that subepithelial layer differed in thickness, and the basal lamina reduplicated regionally. We were not able to determine the structure that correlated with the "ridge" in the central part of the cornea. CONCLUSION: The oil red O positive deposits and their variation in density in the subepithelial area of the cornea may have caused the characteristic whorl-like corneal opacity in this woman who was heterozygous for Fabry's disease.- - - - - - - - - - ranking = 1keywords = corneal opacity, opacity (Clic here for more details about this article) |
2/4. Severe orthostatic hypotension in a female carrier of Fabry's disease.A 21-year-old woman in a family with a history of Fabry's disease showed orthostatic hypotension and whorl-like corneal opacity typical for Fabry's disease. Biochemical studies revealed that she was a heterozygote of the Fabry gene. A variety of autonomic function tests demonstrated both sympathetic and parasympathetic dysfunction. To our knowledge, the present case is the first report of a heterozygous female carrier of Fabry's disease presenting dysfunction of the autonomic nervous system.- - - - - - - - - - ranking = 0.5keywords = corneal opacity, opacity (Clic here for more details about this article) |
3/4. Several functional and fluorescein fundus angiographic findings in Fabry's disease.Fabry's disease has well-known characteristic morphological findings, i.e., the whorl-like corneal opacity and the posterior spoke-like cataract, etc. But its functional aspect has not been investigated fully. Thus, a 47-year-old male with Fabry's disease was examined with Cochet-Bonnet's esthesiometer, photokeratometry, ultrasonography, electropupillography, electroretinography, electro-oculography and fluorescein fundus angiography. Most of functional findings remained normal in spite of corneal opacity, cataract, retinal and conjunctival vascular tortuosity, choroidal vascular disturbance and delayed retinal circulation time. We discuss the reasons why significant functional disturbance has not developed.- - - - - - - - - - ranking = 1keywords = corneal opacity, opacity (Clic here for more details about this article) |
4/4. Fabry's disease: report of a case.Fabry's disease is a rare hereditary disorder of glycosphingolipid metabolism. Its clinical features have not been adequately described in taiwan. This paper reports on a 32-year-old man who had painful acroparesthesia, disseminated skin angiokeratomas, whorled corneal opacity, mitral valve prolapse and renal insufficiency. There was also involvement of the central motor pathways and the autonomic nervous system. A sural nerve biopsy showed loss of small myelinated and unmyelinated fibers. A reduced serum activity of alpha-galactosidase A and a large amount of urinary globotriaosylceramide confirmed the diagnosis of Fabry's disease.- - - - - - - - - - ranking = 0.5keywords = corneal opacity, opacity (Clic here for more details about this article) |