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Enzymatic Mechanisms in Corneal Ulceration with Specific Reference to Familial Dysautonomia: Potential for Genetic Approaches

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Lacrimal Gland, Tear Film, and Dry Eye Syndromes 3

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 506))

Abstract

Dry eye syndromes cause pathological changes in the corneal epithelium. These changes can lead to epithelial erosion that often worsens to involve melting of the superficial stroma. In the worst cases, disease can progress to corneal perforation and blindness. Such complications are commonly encountered in the clinic, and they are painful and incapacitating for the patient. The inherited disorder, familial dysautonomia (FD) or Riley-Day syndrome, is a particularly heart-breaking condition that causes a severe dry eye syndrome. This and other factors lead to corneal ulceration in 50% of FD patients, many of them children. A great need exists to develop better therapeutic measures for corneal erosion and ulceration due to FD as well as other etiologies. Recent insight on the role of matrix metalloproteinases (MMPs) should lead to new avenues for treatment of these devastating disorders. New genetic discoveries and technologies offer exciting promise for further advances, as discussed below.

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Author information

Authors and Affiliations

  1. Vision Research Laboratories, New England Eye Center, Tufts University School of Medicine and Tufts Center for Vision Research, Boston, Massachusetts, USA

    M. Elizabeth Fini

  2. Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts, USA

    Susan A. Slaugenhaupt

  3. Harvard Institute of Human Genetics, Harvard Medical School Boston, Boston, Massachusetts, USA

    Susan A. Slaugenhaupt

Authors
  1. M. Elizabeth Fini
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  2. Susan A. Slaugenhaupt
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Editor information

Editors and Affiliations

  1. Schepens Eye Research Institute, Boston, Massachusetts, USA

    David A. Sullivan , Darlene A. Dartt  & Rose M. Sullivan ,  & 

  2. Harvard Medical School, Boston, Massachusetts, USA

    David A. Sullivan  & Darlene A. Dartt  & 

  3. Allergan, Inc., Irvine, California, USA

    Michael E. Stern

  4. Tokyo Dental College, Chiba, Japan

    Kazuo Tsubota

  5. Ichikawa General Hospital, Chiba, Japan

    Kazuo Tsubota

  6. University of New Orleans, New Orleans, Louisiana, USA

    B. Britt Bromberg

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© 2002 Kluwer Academic/Plenum Publishers

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Fini, M.E., Slaugenhaupt, S.A. (2002). Enzymatic Mechanisms in Corneal Ulceration with Specific Reference to Familial Dysautonomia: Potential for Genetic Approaches. In: Sullivan, D.A., Stern, M.E., Tsubota, K., Dartt, D.A., Sullivan, R.M., Bromberg, B.B. (eds) Lacrimal Gland, Tear Film, and Dry Eye Syndromes 3. Advances in Experimental Medicine and Biology, vol 506. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0717-8_89

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  • DOI: https://doi.org/10.1007/978-1-4615-0717-8_89

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-5208-2

  • Online ISBN: 978-1-4615-0717-8

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