Reis-Bücklers corneal dystrophy is a disease of the eye, a rare corneal dystrophy of unknown cause, 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 corneal dystrophy
Other names
Corneal dystrophy of Bowman layer, type I
Reis-Bücklers corneal dystrophy. Reticular opacity in the superficial cornea
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, or photorefractive keratectomy.
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.[1]
With time, the corneal changes progress into opacities in Bowman's layer, which gradually becomes more irregular and more dense.[1] Significant vision loss may occur.[2] However, vascularization of the cornea is not present.[2]
Pathogenesisedit
The disease has been associated with mutations in TGFBI gene on chromosome 5q which encodes for keratoepithelin.[1] The inheritance is autosomal dominant.[1][2]
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.[citation needed]
Treatmentedit
Treatment is aimed at managing the symptoms of the disease. A form of laser eye surgery named keratectomy may help with the superficial corneal scarring. In more severe cases, a partial or completecorneal transplantation may be considered.[3] However, it is common for the dystrophy to recur within the grafted tissue.[3]
Epidemiologyedit
Reis-Bücklers corneal dystrophy is not associated with any systemic conditions.[1]
Historyedit
The dystrophy was described in 1917 by Reis[4] and in 1949 by Bücklers.[5]
^ abcdeYanoff, Myron; Duker, Jay S. (2008). Ophthalmology (3rd ed.). Edinburgh: Mosby. p. 306. ISBN978-0323057516.
^ abcBiswell, R. "Chapter 6. Cornea.". Vaughan & Asbury's general ophthalmology (18th ed.). New York: McGraw-Hill Medical. ISBN978-0071634205.
^ ab"Reis-Bücklers' Dystrophy". Columbia University. Digital Reference of Ophthalmology. Retrieved 16 December 2012.
^Reis W: Familiäre, fleckige Hornhautentartung. Dtsch Med Wochenschr 1917, 43:575.
^Bücklers M: Über eine weitere familiäre Hornhautdystrophie (Reis). Klin Monatsbl Augenheilkd 1949, 114:386–397.
External linksedit
October 31, 2023
reis, bucklers, corneal, dystrophy, reis, bücklers, corneal, dystrophy, disease, rare, corneal, dystrophy, unknown, cause, which, bowman, layer, cornea, undergoes, disintegration, disorder, inherited, autosomal, dominant, fashion, associated, with, mutations, . Reis Bucklers corneal dystrophy is a disease of the eye a rare corneal dystrophy of unknown cause 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 Bucklers corneal dystrophyOther namesCorneal dystrophy of Bowman layer type IReis Bucklers corneal dystrophy Reticular opacity in the superficial corneaSpecialtyOphthalmologyReis Bucklers 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 Bucklers 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 or photorefractive keratectomy Contents 1 Signs and symptoms 2 Pathogenesis 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 External linksSigns and symptoms editPatients with Reis Bucklers 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 1 With time the corneal changes progress into opacities in Bowman s layer which gradually becomes more irregular and more dense 1 Significant vision loss may occur 2 However vascularization of the cornea is not present 2 Pathogenesis editThe disease has been associated with mutations in TGFBI gene on chromosome 5q which encodes for keratoepithelin 1 The inheritance is autosomal dominant 1 2 nbsp Reis Bucklers corneal dystrophy Light microscopy of cornea showing characteristic red stained deposits of mutated transforming growth factor beta induced protein in the superficial corneal stroma Masson s trichrome stain Diagnosis editThe diagnosis of Reis Bucklers corneal dystrophy is based on the clinical presentation rather than labs or imaging Sometimes it is difficult to distinguish the disease from honeycomb dystrophy citation needed Treatment editTreatment is aimed at managing the symptoms of the disease A form of laser eye surgery named keratectomy may help with the superficial corneal scarring In more severe cases a partial or complete corneal transplantation may be considered 3 However it is common for the dystrophy to recur within the grafted tissue 3 Epidemiology editReis Bucklers corneal dystrophy is not associated with any systemic conditions 1 History editThe dystrophy was described in 1917 by Reis 4 and in 1949 by Bucklers 5 See also editCorneal dystrophyReferences edit a b c d e Yanoff Myron Duker Jay S 2008 Ophthalmology 3rd ed Edinburgh Mosby p 306 ISBN 978 0323057516 a b c Biswell R Chapter 6 Cornea Vaughan amp Asbury s general ophthalmology 18th ed New York McGraw Hill Medical ISBN 978 0071634205 a b Reis Bucklers Dystrophy Columbia University Digital Reference of Ophthalmology Retrieved 16 December 2012 Reis W Familiare fleckige Hornhautentartung Dtsch Med Wochenschr 1917 43 575 Bucklers M Uber eine weitere familiare Hornhautdystrophie Reis Klin Monatsbl Augenheilkd 1949 114 386 397 External links edit Retrieved from https en wikipedia org w index php title Reis Bucklers corneal dystrophy amp oldid 1162919722, wikipedia, wiki, book, books, library,
