Article

Central discoid corneal dystrophy.

Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California 90095, USA.
Cornea (Impact Factor: 1.75). 12/2002; 21(8):739-44. DOI: 10.1097/00003226-200211000-00001
Source: PubMed

ABSTRACT To present a small kindred with a unique dominantly inherited corneal stromal dystrophy.
A 31-year-old man was noted to have bilateral, symmetric, central discoid corneal stromal opacification. We performed bilateral penetrating keratoplasties for decreased visual acuity, glare, and photophobia.
Light microscopy revealed multiple extracellular vacuoles, concentrated in the anterior one-half of the central corneal stroma. Material within the vacuoles demonstrated intense reactivity with alcian blue and colloidal iron stains, consistent with glycosaminoglycan deposition. Transmission electron microscopy demonstrated nonmembrane-bound vacuoles in the stroma that contained a faintly osmiophilic matrix and black circular profiles. Immunohistochemical analysis of the vacuolar deposits revealed that chondroitin sulfate was the primary glycosaminoglycan present. A clinical and serologic evaluation revealed no evidence of a systemic storage disorder. Genetic analysis did not reveal a mutation in the coding region of the CHST6 gene.
Given these unique clinical and histopathologic findings as well as nearly identical clinical findings in the patient's father and one of four brothers, the authors believe that this represents a previously unreported, dominantly inherited corneal stromal dystrophy.

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    ABSTRACT: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis. The purpose of this study was to develop a new classification system for corneal dystrophies, integrating up-to-date information on phenotypic description, pathologic examination, and genetic analysis. The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature. This anatomic classification continues to organize dystrophies according to the level chiefly affected. Each dystrophy has a template summarizing genetic, clinical, and pathologic information. A category number from 1 through 4 is assigned, reflecting the level of evidence supporting the existence of a given dystrophy. The most defined dystrophies belong to category 1 (a well-defined corneal dystrophy in which a gene has been mapped and identified and specific mutations are known) and the least defined belong to category 4 (a suspected dystrophy where the clinical and genetic evidence is not yet convincing). The nomenclature may be updated over time as new information regarding the dystrophies becomes available. The IC3D Classification of Corneal Dystrophies is a new classification system that incorporates many aspects of the traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Standardized templates provide key information that includes a level of evidence for there being a corneal dystrophy. The system is user-friendly and upgradeable and can be retrieved on the website www.corneasociety.org/ic3d.
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