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Reis–Bucklers corneal dystrophy
Reis-Bücklers corneal dystrophy, also known as Corneal dystrophy of Bowman layer, type I, is a rare, idiopathic corneal dystrophy in which the Bowman's layer of the cornea undergoes disintegration. The disorder is inherited in an autosomal dominant fashion, and is associated with mutations in the gene TGFB1.
Reis-Bücklers dystrophy causes a cloudiness in the corneas of both eyes, which may occur as early as 1 year of age, but usually develops by 4 to 5 years of age. This cloudiness, or opacity, causes the corneal epithelium to become eleveated, which leads to corneal erosions. The corneal erosions may prompt attacks of redness and swelling in the eye (ocular hyperemia), eye pain, and photophobia. Significant vision loss may occur.
Reis-Bücklers dystrophy is diagnosed by clinical history physical examination of the eye. Labs and imaging studies are not necessary. Treatment may include a complete or partial corneal transplant, or photorefractive keratectomy.
== History ==
The dystrophy was described in 1917 by Reis〔Reis W: Fämiliare, fleckige Hornhautetartung. Dtsch Med Wochenschr 1917, 43:575.〕 and in 1949 by Bücklers.〔Bücklers M: Über eine weitere familiare Hornhautdystrophie (Reis). Klin Monatsbl Augenheilkd 1949, 114:386–397.〕
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