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 ...

of unknown cause, in which the

Bowman's layer The Bowman's 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 Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

fashion, and is associated with mutations in the gene

TGFB1 Transforming growth factor beta 1 or TGF-β1 is a polypeptide member of the transforming growth factor beta superfamily of cytokines. It is a secreted protein that performs many cellular functions, including the control of cell growth, cell proli ...

. 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 The corneal epithelium (epithelium corneae anterior layer) is made up of epithelial tissue and covers the front of the cornea. It acts as a barrier to protect the cornea, resisting the free flow of fluids from the tears, and prevents bacteria fr ...

to become elevated, which leads to corneal opacities. The corneal erosions may prompt attacks of redness and swelling in the eye (ocular

hyperemia Hyperaemia (also hyperemia) is the increase of blood flow to different tissues in the body. It can have medical implications but is also a regulatory response, allowing change in blood supply to different tissues through vasodilation (widenin ...

), eye pain, and

photophobia Photophobia is a medical symptom of abnormal intolerance to visual perception of light. As a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence o ...

. 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 Corneal button, donated corneal tissue (the graft). When the entire cornea is replaced it is known as penetrating ...

, or

photorefractive 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. ...

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

, eventually leading to corneal erosions that prompt attacks of ocular

, pain, and

. 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 arginylglycylaspartic acid, RGD-con ...

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 surgery or ocular surgery, is surgery performed on the eye or its adnexa. Eye surgery is part of ophthalmology and is performed by an ophthalmologist or eye surgeon. The eye is a fragile organ, and requires ...

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 d ...

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