Reis-Bucklers corneal dystrophy

Reis-Bucklers corneal dystrophy, also called corneal dystrophy of Bowman layer type I, is a rare disease of the eye of unknown cause in which the Bowman's layer of the cornea undergoes disintegration. It is inherited in an autosomal dominant pattern and is associated with mutations in the TGFBI gene. The disorder causes cloudiness in the corneas of both eyes, which may appear as early as age 1 but usually develops by age 4 to 5, and is usually evident within the first decade of life. This cloudiness causes the corneal epithelium to become elevated, producing corneal opacities; the resulting corneal erosions can prompt attacks of eye redness and swelling, eye pain, and sensitivity to light. Significant vision loss can occur. Diagnosis is based on clinical history and physical examination of the eye; laboratory and imaging studies are not necessary. Treatment can include a complete or partial corneal transplant, or photorefractive keratectomy. It falls under ophthalmology.