The Asia-Pacific Journal of Ophthalmology

Asia-Pacific Journal of Ophthalmology:

Issue 4, July/August 2016 Review Article

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies: A Review

Oliver, Verity Frances; Vincent, Andrea Louise



Author Information


From the *Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand; and †Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.


Reprints: Andrea Louise Vincent, MD, MBChB, FRANZCO. New Zealand National Eye Centre, The University of Auckland, 85 Park Rd, Grafton, Auckland 1023. E-mail: a.vincent@auckland.ac.nz.



Abstract


Corneal dystrophies are a group of inherited disorders affecting the cornea, many of which lead to visual impairment. The International Committee for Classification of Corneal Dystrophies has established criteria to clarify the status of the various corneal dystrophies, which include the knowledge of the underlying genetics. In this review, we discuss the International Committee for Classification of Corneal Dystrophies category 1 (second edition) corneal dystrophies, for which a clear genetic link has been established. We highlight the various mechanisms underlying corneal dystrophy pathology, including structural disorganization, instability or maladhesion, aberrant protein stability and deposition, abnormal cellular proliferation or apoptosis, and dysfunction of normal enzymatic processes. Understanding these genetic mechanisms is essential for designing targets for therapeutic intervention, especially in the age of gene therapy and gene editing.




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