June 2015
Volume 56, Issue 7
ARVO Annual Meeting Abstract  |   June 2015
Ocular Ultrastructural Features of Gaucher Disease
Author Affiliations & Notes
  • Mones S Abu-Asab
    Lab of Immunol/Sect of Immunopath, National Eye Institute, Bethesda, MD
  • Christopher Ardeljan
    Lab of Immunol/Sect of Immunopath, National Eye Institute, Bethesda, MD
  • Chi-Chao Chan
    Lab of Immunol/Sect of Immunopath, National Eye Institute, Bethesda, MD
  • Footnotes
    Commercial Relationships Mones Abu-Asab, None; Christopher Ardeljan, None; Chi-Chao Chan, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 3412. doi:
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      Mones S Abu-Asab, Christopher Ardeljan, Chi-Chao Chan; Ocular Ultrastructural Features of Gaucher Disease. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3412.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: Gaucher disease is a lysosomal storage disorder resulting from mutations in the enzyme glucocerebrosidase (aka b-glucosidase). It leads to the massive accumulation of glucocerebroside (glucosylceramide) within phagocytic cells throughout the body, particularly white blood cells such as macrophages. Lysosomes turn into Gaucher bodies, and cells with Gaucher bodies turn into Gaucher cells. In addition to histology, we have undertaken an ultrastructural approach to examine a case of Gaucher disease in order to uncover the state of affected ocular tissues and their cellular organelles. Currently, there is no adequate ultrastructural survey of Gaucher in the eye.<br />

Methods: A postmortem ultrastructural examination and immunohistochemistry was performed on ciliary body (OD & OS), retina (OD & OS), choroid (OD & OS), sclera (OD & OS), corneal limbus (OS), and cornea (OD). The patient was a 61 year old woman with type I Gaucher since the age of 14. The tissues were prepared for transmission electron microscopy.

Results: By light microscopy, Gaucher body inclusions (GBIs) were seen in ciliary body, choroid, sclera, and some infiltration in the retina. There were lipid-laden foamy histiocytes throughout the choroid, many CD68+ macrophages, and a few of CD45RO+ T cells, CD3+ T cells, and CD20+ B cells. EM showed GBIs present in ciliary pigmentary epithelium, while ciliary non-pigmentary epithelium appeared vacuolated probably due to the remains of storage vacuoles. Axons of the ciliary body had abnormal and degenerate myelin sheaths and numerous membranous myelin inclusions; and Schwann cells contained cholesterol inclusions. Choroid was full of Gaucher cells filled with GBIs. GBIs were found mainly along the vessels in sclera. In the retina, some neuronal cells contained fine homogenous granular materials that had replaced normal cytoplasmic organelles mainly in the GCL and INL. No GBIs were seen in the cornea, corneal limbus, neural retina, or RPE. In the cornea, there were melanosome laden macrophages, but no GBIs.

Conclusions: Gaucher disease affected the ocular tissues and GBIs were evident in the ciliary body, choroid, and sclera. Furthermore, there were other pathological transformations such as degenerate axons in ciliary body, large inclusions in retinal ganglion cell layer, melanosome-laden macrophages in the cornea, and condensed Bruch’s membrane with loss of elastin fibrils.


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