May 2006
Volume 47, Issue 13
ARVO Annual Meeting Abstract  |   May 2006
In vivo Confocal Microscopy Study of Corneal and Conjunctival Manifestations in Fabry Disease
Author Affiliations & Notes
  • M. Nubile
    Ophthalmology, University, Chieti, Italy
  • M. Lanzini
    Ophthalmology, University, Chieti, Italy
  • P. Carpineto
    Ophthalmology, University, Chieti, Italy
  • L. Toto
    Ophthalmology, University, Chieti, Italy
  • O. Costantino
    Ophthalmology, University, Chieti, Italy
  • G. Gambino
    Ophthalmology, University, Chieti, Italy
  • L. Mastropasqua
    Ophthalmology, University, Chieti, Italy
  • Footnotes
    Commercial Relationships  M. Nubile, None; M. Lanzini, None; P. Carpineto, None; L. Toto, None; O. Costantino, None; G. Gambino, None; L. Mastropasqua, None.
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 4964. doi:
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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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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : To evaluate the microscopic corneal and conjunctival morhpology in patients with Fabry disease (FD) related keratopathy by using in vivo confocal microscopy (IVCM).

Methods: : 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.

Results: : 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.

Conclusions: : 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.

Keywords: cornea: epithelium 

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