Abstract
We report a French family suffering from an Avellino corneal dystrophy diagnosed by using clinical, histological, ultrastructural and genetics findings. Our results indicate that direct corneal examination and routine histological examinations must always be associated with an assay for BIGH3 gene mutations to establish a modern and unambiguous diagnosis of a corneal dystrophy.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adult
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Cornea / pathology
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Cornea / ultrastructure
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Corneal Dystrophies, Hereditary / diagnosis*
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Corneal Dystrophies, Hereditary / genetics
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Corneal Dystrophies, Hereditary / pathology
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DNA / analysis
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Diagnosis, Differential
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Female
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Humans
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Infant
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Male
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Microscopy, Electron
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Middle Aged
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Mutation
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Polymerase Chain Reaction