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    Updated classification gives order to corneal dystrophy

    Better diagnosis can help patients, physicians chart out best approach

     

    The most important changes in the update:

    ·      A new anatomic category for dystrophies that map to the TGFBI gene.

    ·      Expansion of the epithelial recurrent erosion dystrophy (ERED) category. “This is a dystrophy that I think most people are not taught about,” says Dr. Weiss. “It’s not in all the books.” Recent research has uncovered more subtypes of ERED, which often causes recurrent unexplained corneal erosions in children and can lead to multiple opacities in adults. The condition is autosomal dominant disease.

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    ·      Eliminated a chromosome 10 dystrophy from the Thiel-Behnke category. Earlier reports of a Thiel-Behnke dystrophy on chromosome 10 were not substantiated by further research, which confirmed that all Thiel-Behnke dystrophies are on the TGFBI gene on chromosome 5. The dystrophy reported on chromosome 10 that resembles Thiel-Behnke, may belong in the ERED category.

    ·      Eliminated congenital hereditary endothelial dystrophy 1 (CHED 1). The autosomal dominant condition that was being called CHED 1 was actually a different dystrophy called posterior polymorphous corneal dystrophy. “Sometimes these dystrophies with new names turn out to be old ones,” said Dr. Weiss. Consequently, autosomal dominant CHED 1 has been eliminated and the autosomal recessive corneal dystrophy previously called CHED 2 is now named CHED.

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    In addition, the authors have added histopathologic descriptions with photos.

    The new document builds on the work in the original document, which replaced categories based on anatomy with categories based on genes.

    “Two things that look the same if they have a different genetic origin are probably not the same,” Dr. Weiss said. “And we may have some diseases on the same gene that may look very different, but if they’re on the same gene, maybe with different mutations, there could be more similarity to those diseases than you might guess at first glance.”

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    In the process of that work, the researchers found exceptions to the commonly used definition of corneal dystrophy —an inherited, bilateral, slowly progressing corneal disease without systemic associations. Not all are inherited, bilateral or slowly progressing, and some have systemic associations, Dr. Weiss explained.

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