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Two Cases of Reis-Bücklers Corneal Dystrophy (Granular Corneal Dystrophy Type III) Caused by Spontaneous Mutations in the TGFBI Gene
Arch Ophthalmol. 2006;124:589-593.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Reis-Bücklers corneal dystrophy (RBCD) is an inherited corneal disorder that was first described by Reis1 in 1917 and later by Bücklers2 in 1949. Affected individuals have an onset early in life and have frequently recurring, painful corneal erosions, superficial corneal opacities, and significant visual impairment. The literature on this entity, which has several synonyms (granular corneal dystrophy [GCD] type III, superficial variant of GCD, corneal dystrophy of Bowman layer type I), is bewildering not only because of the nomenclature but also because this genetically determined disorder has been confused with a different condition, Thiel-Behnke corneal dystrophy (TBD). Although RBCD and TBD are now considered distinct clinicopathologic disorders,3 a precise diagnosis of these corneal disorders was difficult until recently because it relied only on the clinical and histopathologic features.
Both RBCD and TBD are autosomal dominant disorders of the superficial corneal stroma that manifest as recurrent corneal erosions in early childhood.1-4 . . . [Full Text of this Article] Methods
Results
Comment
AUTHOR INFORMATION
Tasha Y. Tanhehco, MD;
David E. Eifrig, Jr, MD, MBA;
Ivan R. Schwab, MD;
Christopher J. Rapuano, MD;
Gordon K. Klintworth, MD, PhD
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