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M. Nubile, M. Lanzini, P. Carpineto, L. Toto, O. Costantino, G. Gambino, L. Mastropasqua; In vivo Confocal Microscopy Study of Corneal and Conjunctival Manifestations in Fabry Disease . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4964.
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To evaluate the microscopic corneal and conjunctival morhpology in patients with Fabry disease (FD) related keratopathy by using in vivo confocal microscopy (IVCM).
IVCM examination was performed in twelve eyes of six patients affected by Fabry disease, belonging to two different families. Corneal and conjunctival morphology were assessed by using a Laser–Scanning confocal Microscope.
Confocal microscopy examination revealed two different types of corneal epithelial alterations. The three hemizygous patients presented bright hyper–reflective intracellular inclusions
located within the basal epithelial cells, while the three heterozygous patients showed fine diffusion
of reflective substance at the level of superficial, basal epithelial cells and basal membrane, in all
eyes. The complex basal–Bowman’s membrane appeared irregular, distorted and non–homogeneous
in all subjects. Stromal increased reflectivity due to haze and epithelial ingrowth with bright
intracellular inclusions was observed in one hemizygous patient. In all patients conjunctival epithelial
involvement represented by bright roundish intracellular inclusions was evidenced, in both bulbar and tarsal conjunctiva. The density and severity of conjunctival bright inclusions appeared more
pronounced in tarsal than in bulbar conjunctiva.
Although FD–related cornea verticillata due to glycosphingolipids accumulation is considered to be primarily a corneal disease, in vivo confocal microscopy showed structural
alterations throughout the entire ocular surface epithelia. It is still unclear weather the different type
of corneal epithelial lesions observed for hemizygous and heterozygous patients is to be related to
different physiopathological mechanisms. Confocal microscopy may assist ophthalmologists in the
diagnosis of FD–related ocular surface and corneal manifestations and in the detection of variations while monitoring the effect of enzyme replacement therapy.
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