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Central discoid corneal dystrophy.

Anthony J Aldave·Deepak P Edward·Anna J Park·Irving M Raber·Ralph C Eagle
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Abstract

PURPOSE: To present a small kindred with a unique dominantly inherited corneal stromal dystrophy. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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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AdultCorneal Dystrophies, HereditaryCorneal StromaDNA Mutational AnalysisEpitheliumHumansKeratoplasty, PenetratingMaleSulfotransferasesVacuolesVisual AcuityCarbohydrate SulfotransferasesCase ReportsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.

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Anthony J Aldave, Deepak P Edward, Anna J Park, Irving M Raber, Ralph C Eagle. 2002. Central discoid corneal dystrophy.. https://doi.org/10.1097/00003226-200211000-00001

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