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

  • M. Elizabeth Fini
  • Susan A. Slaugenhaupt
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 506)


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.


Gene Therapy Transduction Efficiency Epithelial Defect Photorefractive Keratectomy Corneal Haze 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Kluwer Academic/Plenum Publishers 2002

Authors and Affiliations

  • M. Elizabeth Fini
    • 1
  • Susan A. Slaugenhaupt
    • 2
    • 3
  1. 1.Vision Research Laboratories, New England Eye CenterTufts University School of Medicine and Tufts Center for Vision ResearchBostonUSA
  2. 2.Molecular Neurogenetics UnitMassachusetts General HospitalCharlestownUSA
  3. 3.Harvard Institute of Human GeneticsHarvard Medical School BostonBostonUSA

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