Article
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.
Investigative ophthalmology & visual science - 1 Feb 2005
Bredrup Cecilie, Knappskog Per M, Majewski Jacek, Rødahl Eyvind, Boman Helge
Abstract excerpt
PURPOSE: To describe the clinical and pathologic characteristics of a family with a congenital stromal dystrophy of the cornea and to identify the genetic basis for this disorder. METHODS: All family members in three generations underwent ophthalmic examination. Stored corneal buttons were examined by transmission electron microscopy. Molecular genetic studies, including a genome-wide scan with microsatellite...
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