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Reis-Bucklers Corneal Dystrophy

RBCD

Reis-Bucklers corneal dystrophy is an infrequent, bilateral, hereditary corneal disorder characterized by a progressive decrease in visual acuity starting in early childhood as a consequence of corneal opacities and scarring. The diagnosis depends primarily on history and clinical examination.


Presentation

Reis-Bucklers corneal dystrophy (RBCD) primarily involves the Bowman’s layer of the cornea and was first described by Reis in 1917 [1], followed in 1949 by Bucklers [2]. It is also known as granular corneal dystrophy (GCD) type III, a superficial variant of GCD, and corneal dystrophy of Bowman layer type I. It should be distinguished from Thiel-Behnke corneal dystrophy (TBCD) which also involves Bowman's layer but differs clinically, genetically, and prognostically. Both of these dystrophies are transmitted in an autosomal dominant pattern [1] [2] [3] [4].

Patients with RBCD are usually asymptomatic until they start to suffer from an exacerbation of recurrent corneal erosions which is characterized by severe ocular pain and hyperemia. This typically occurs around the age of 5 years and is accompanied by foreign body sensation and photophobia. The corneal erosions decrease with age but the visual acuity progressively worsens by the age of 20 years with the development of an irregular surface of the cornea.

RBCD can be differentiated from TBCD clinically as the corneal opacities in RBCD are confluent and geographical [1] [2] [5], whereas they are honeycomb shaped in TBCD [3] [6]. Genetically, RBCD is caused by an R124L mutation while TBCD is due to an R555Q mutation in the transforming growth factor β–induced (TGFBI) gene on chromosome 5q31 [6].

Corneal Opacity
  • A 50-year-old man (the proband) experienced recurring attacks of ocular irritation and had had bilateral ring-shaped anterior corneal opacity since adolescence. Corneal sensation was normal.[ncbi.nlm.nih.gov]
  • RBCD can be differentiated from TBCD clinically as the corneal opacities in RBCD are confluent and geographical, whereas they are honeycomb shaped in TBCD.[symptoma.com]
  • Definition A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive[uniprot.org]
  • 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.[en.wikipedia.org]
  • 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 .[howlingpixel.com]
Strabismus
  • Strabismus MedGen UID: 21337 • Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation.[ncbi.nlm.nih.gov]

Workup

The workup includes a detailed history followed by a thorough ophthalmological examination. A positive family history is usually indicative of the diagnosis. The ophthalmologist will perform visual acuity testing, slit lamp examination, and anterior segment optical coherence tomography which is useful in the assessment of the disorder [6] [7] [8] [9]. Clinically, RBCD is characterized by confluent geographic opacities whereas TBCD by honeycomb-shaped opacities. Laboratory tests are not performed as part of the workup as they are not helpful.

A corneal biopsy is not routinely performed but can be considered after a corneal transplant procedure. On histological examination, RBCD is associated with "rod-shaped bodies" while "curly fibers" are found in TBCD.

Besides histopathological analyses, genetic studies in affected individuals are used to detect transforming growth factor β–induced (TGFBI) gene mutations on chromosome 5q31. Studies have reported that an R124L mutation is associated with RBCD while an R555Q mutation is associated with TBCD [10] [11] [12]. These studies help in clear distinguishing between the two types of corneal dystrophies whose prognosis is also different [12].

Streptococcus Pneumoniae
  • Streptococcus pneumoniae (the pneumococcus) is a true bacterial corneal pathogen; other pathogens require a heavy inoculum, compromised barrier function, or a relative immune deficiency to produce infection.[accessmedicine.com]

Treatment

  • Treatment [ edit ] 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.[en.wikipedia.org]
  • The surface irregularities causing discomfort may respond to conservative treatment using drops or bandages. However, surgical treatment of the cornea may be required in severe cases but the breakdown of tissue can recur.[disorders.eyes.arizona.edu]
  • The treatment of Reis-Bücklers' corneal dystrophy by superficial keratectomy is described. The clinical presentation, relevant histopathology, and electron microscopy of the disease are reviewed.[ncbi.nlm.nih.gov]
  • Traditionally, the main option for treatment has been a corneal transplant – a high risk procedure that many people choose not to undergo.[allonbarsam.com]
  • Cite this Apa Standard Harvard Vancouver BIBTEX RIS Wood, TO, Fleming, J, Dotson, RS & Cotten, MS 1978, ' Treatment of Reis Bucklers' corneal dystrophy by removal of subepithelial fibrous tissue ' American Journal of Ophthalmology, vol. 85, no. 3, pp.[uthsc.pure.elsevier.com]

Prognosis

  • These studies help in clear distinguishing between the two types of corneal dystrophies whose prognosis is also different.[symptoma.com]
  • Diagnosis and Prognosis: Reis-B ºcklers corneal dystrophy can only be diagnosed by an ophthalmologist. The surface irregularities causing discomfort may respond to conservative treatment using drops or bandages.[disorders.eyes.arizona.edu]
  • PMID: 11095060 Prognosis Vinciguerra P, Vinciguerra R, Randleman JB, Torres I, Morenghi E, Camesasca FI J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01.[ncbi.nlm.nih.gov]
  • Patients who have macular dystrophy have a poor prognosis, but are unlikely to pass this dystrophy on because it is autosomal recessive.[clspectrum.com]
  • The prognosis of EBMD varies. Most people who have it find that it gets progressively worse as they age. Patients usually experience flare ups, followed by periods of not noticing the issue at all for months or years.[whatisdryeye.com]

Etiology

  • Etiology Reis-Bücklers corneal dystrophy is caused by a specific mutation in the TGFBI gene (5q31).[orpha.net]
  • Etiology J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01. PMID: 30296329 Qiu WY, Zheng LB, Pan F, Wang BB, Yao YF BMC Ophthalmol 2016 Sep 2;16(1):158. doi: 10.1186/s12886-016-0325-y.[ncbi.nlm.nih.gov]
  • Xe a review by Klintworth, The etiology of FECD is unknown, but it seems to be a heterogenous complex inherited disorder caused by the interaction of genetic and environmental factors.[teren.mobi]
  • Non-Ulcerative Keratitis Superficial keratitis Diffuse superficial keratitis Superficial Punctate Keratitis (SPK) Deep Keratitis Non-suppurative Interstitial Disciform Sclerosing Keratitis Profunda Suppurative Central Corneal Posterior Corneal Etiological[en.wikibooks.org]
  • Today, we have a multitude of tools at our disposal to investigate the etiology of disease.[reviewofcontactlenses.com]

Epidemiology

  • 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 [ edit ] Reis-Bücklers corneal dystrophy is not associated with any[en.wikipedia.org]
  • Summary Epidemiology Prevalence of this form of corneal dystrophy is not known. Clinical description Lesions develop at about 4 to 5 years of age.[orpha.net]
  • 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 Reis-Bücklers corneal dystrophy is not associated with any systemic[howlingpixel.com]
  • Because we only had one case of macular dystrophy, any conclusion about epidemiological data could be misleading.[scielo.br]
Sex distribution
Age distribution

Pathophysiology

  • A greater understanding of FED pathophysiology may assist in the future with the development of treatments to prevent progression of disease.[teren.mobi]

Prevention

  • Doctors will sometimes prescribe antibiotics to prevent infection if there is an erosion during an episode.[perso.numericable.fr]
  • CONCLUSIONS: The use of topical MMC in conjunction with PTK may be a safe and effective treatment of Reis-Bücklers dystrophy and may be helpful in preventing recurrence of the disease.[ncbi.nlm.nih.gov]
  • Most patients will need to fhchs seen often in the first few weeks after the surgery to ensure surgical success and prevent infection.[teren.mobi]
  • There are a number of potential risk factors: Age Family history LASIK eye surgery Trauma to the eye, including corneal abrasion How to Prevent EBMD Unfortunately, there is no real prevention for EBMD, other than ensuring the eyes stay healthy and avoid[whatisdryeye.com]
  • To prevent further erosions, hypertonic solutions during the day or hypertonic ointments at night may be necessary for up to three months.[clspectrum.com]

References

Article

  1. Reis W. Fämiliare, fleckige Hornhautetartung. Dtsch Med Wochenschr.1917;43575
  2. Bücklers M. Über eine weitere familiare Hornhautdystrophie (Reis). Klin Monatsbl Augenheilkd.1949;114386- 397
  3. Küchle M, Green WR, Völcker HE, Barraquer J. Reevaluation of corneal dystrophies of Bowman’s layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea. 1995;14:333–354.
  4. Thiel HJ, Behnke H. Ein bisher unbekannte subepitheliale hereditare Hornhautdystrophie. Klin Monatsbl Augenheilkd 1967;150862- 874
  5. Dighiero P, Niel F, Ellies P et al. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology 2001;108818- 823
  6. Qiu WY, Zheng L-B, Pan F, et al. New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene. BMC Ophthalmol. 2016;16(1):158
  7. Dalton K, Schneider S, Sorbara L, Jones L. Confocal microscopy and optical coherence tomography imaging of hereditary granular dystrophy. Cont Lens Anterior Eye. 2010;33(1):33-40.
  8. Ashar JN, Latha M, Vaddavalli PK. Phototherapeutic keratectomy versus alcohol epitheliectomy with mechanical debridement for superficial variant of granular dystrophy: A paired eye comparison. Cont Lens Anterior Eye. 2012;35(5):236-239.
  9. Jung SH, Han KE, Stulting RD, et al. Phototherapeutic Keratectomy in Diffuse Stromal Haze in Granular Corneal Dystrophy Type 2. Cornea. 2013;32(3):296-300.
  10. Mashima Y, Nakamura Y, Noda K, et al. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol 1999;11790-93
  11. Dighiero P, Valleix S, D'Hermies F, et al. Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene. Ophthalmology 2000;1071353-1357
  12. Ellies P, Renard G, Valleix S, Boelle PY, Dighiero P. Clinical outcome of eight BIGH3-linked corneal dystrophies. Ophthalmology 2002;109:793-797

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Last updated: 2019-07-11 20:08