Reis-Bücklers corneal dystrophy is a disease of the eye, a rare

corneal dystrophy Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. Signs and symptoms Corneal dystrophy may not significantly affect v ...

of unknown cause, in which the

Bowman's layer The Bowman layer (Bowman's membrane, anterior limiting lamina, anterior elastic lamina) is a smooth, acellular, nonregenerating layer, located between the superficial epithelium and the stroma in the cornea of the eye. It is composed of strong, ...

of the cornea undergoes disintegration. The disorder is inherited in an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

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. It is usually evident within the first decade of life. This cloudiness, or opacity, causes the corneal epithelium to become elevated, which leads to corneal opacities. 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. Laboratory and imaging studies are not necessary. Treatment may include a complete or partial

corneal transplant Corneal transplantation, also known as corneal grafting, is a surgical procedure where a damaged or diseased cornea is replaced by donated corneal tissue (the graft). When the entire cornea is replaced it is known as penetrating keratoplasty ...

, or photorefractive keratectomy.

Signs and symptoms

Patients with Reis-Bücklers dystrophy develop a reticular pattern of cloudiness in the cornea. This cloudiness, or opacity, usually appears in both eyes (bilaterally) in the upper cornea by 4 or 5 years of age. The opacity elevates the corneal epithelium, eventually leading to corneal erosions that prompt attacks of ocular hyperemia, pain, and photophobia. These recurrent painful corneal epithelial erosions often begin as early as 1 year of age. With time, the corneal changes progress into opacities in

, which gradually becomes more irregular and more dense. Significant vision loss may occur. However, vascularization of the cornea is not present.

Pathogenesis

The disease has been associated with mutations in

TGFBI Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the ''TGFBI'' gene, locus 5q31. Function This gene encodes an RGD-containing protein that binds ...

gene on chromosome 5q which encodes for keratoepithelin. The inheritance is

Mutated transforming growth factor beta induced protein in the superficial corneal stroma

Diagnosis

The diagnosis of Reis-Bücklers corneal dystrophy is based on the clinical presentation, rather than labs or imaging. Sometimes it is difficult to distinguish the disease from honeycomb dystrophy.

Treatment

Treatment is aimed at managing the symptoms of the disease. A form of

laser eye surgery Eye surgery, also known as ophthalmic or ocular surgery, is surgery performed on the eye or its adnexa, by an ophthalmologist or sometimes, an optometrist. Eye surgery is synonymous with ophthalmology. The eye is a very fragile organ, and requ ...

named

keratectomy Photorefractive keratectomy (PRK) and laser-assisted sub-epithelial keratectomy (or laser epithelial keratomileusis) (LASEK) are laser eye surgery procedures intended to correct a person's vision, reducing dependency on glasses or contact lenses ...

may help with the superficial corneal scarring. In more severe cases, a

partial Partial may refer to: Mathematics * Partial derivative, derivative with respect to one of several variables of a function, with the other variables held constant ** ∂, a symbol that can denote a partial derivative, sometimes pronounced "partial ...

complete Complete may refer to: Logic * Completeness (logic) * Completeness of a theory, the property of a theory that every formula in the theory's language or its negation is provable Mathematics * The completeness of the real numbers, which implies t ...

corneal transplantation Corneal transplantation, also known as corneal grafting, is a surgical procedure where a damaged or diseased cornea is replaced by donated corneal tissue (the graft). When the entire cornea is replaced it is known as penetrating keratoplasty a ...

may be considered. However, it is common for the dystrophy to recur within the grafted tissue.

Epidemiology

Reis-Bücklers corneal dystrophy is not associated with any systemic conditions.

History

The dystrophy was described in 1917 by ReisReis W: Familiäre, fleckige Hornhautentartung. Dtsch Med Wochenschr 1917, 43:575. and in 1949 by Bücklers.Bücklers M: Über eine weitere familiäre Hornhautdystrophie (Reis). Klin Monatsbl Augenheilkd 1949, 114:386–397.

References

External links

{{DEFAULTSORT:Reis-Bucklers Corneal Dystrophy Disorders of sclera and cornea Autosomal dominant disorders