Epithelial basement membrane dystrophy

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Epithelial basement membrane dystrophy
Other namesMap-dot-fingerprint dystrophy and Cogans's microcystic dystrophy
Specialty Ophthalmology

Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye that can cause pain and dryness.

Contents

It is sometimes included in the group of corneal dystrophies. [1] It diverges from the formal definition of corneal dystrophy since it is non-familial in most cases. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive. When it is considered part of this group, it is the most common type of corneal dystrophy. [2]

Signs and symptoms

Patients may complain of severe problems with dry eyes, or with visual obscurations. [3] It can also be asymptomatic, and only discovered because of subtle lines and marks seen during an eye exam. [2]

EBMD is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Findings are variable and can change with time. While the disorder is usually asymptomatic, up to 10% of patients may have recurrent corneal erosions, usually beginning after age 30; conversely, 50% of patients presenting with idiopathic recurrent erosions have evidence of this dystrophy. [4]

Pathophysiology

In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified, [5] but according to the International Committee for Classification of Corneal Diseases (IC3D) [6] the available data still does not merit a confident inclusion of EBMD in the group of corneal dystrophies. In view of this, the more accurate designation of the disease is possibly not dystrophy but corneal degeneration. [7]

The main pathological feature of the disease is thickened, multilaminar and disfigured basement membrane of corneal epithelium. The change in the structure affects the epithelium, some cells of which may become entrapped in the rugged membrane and fail to migrate to the surface where they should undergo desquamation.

Treatment

Phototherapeutic keratectomy (PTK) done by an ophthalmologist can restore and preserve useful visual function for a significant period of time in patients with anterior corneal dystrophies including EBMD. [4]

See also

Related Research Articles

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<span class="mw-page-title-main">Recurrent corneal erosion</span> Medical condition

Recurrent corneal erosion is a disorder of the eyes characterized by the failure of the cornea's outermost layer of epithelial cells to attach to the underlying basement membrane. The condition is excruciatingly painful because the loss of these cells results in the exposure of sensitive corneal nerves. This condition can often leave patients with temporary blindness due to extreme light sensitivity (photophobia).

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<span class="mw-page-title-main">Corneal dystrophy</span> Medical condition

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<span class="mw-page-title-main">Corneal epithelium</span>

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<span class="mw-page-title-main">TGFBI</span>

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<span class="mw-page-title-main">Meesmann corneal dystrophy</span> Medical condition

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<span class="mw-page-title-main">Macular corneal dystrophy</span> Medical condition

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<span class="mw-page-title-main">Reis–Bucklers corneal dystrophy</span> Medical condition

Reis-Bücklers corneal dystrophy is 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.

Thiel–Behnke dystrophy is a rare form of corneal dystrophy affecting the layer that supports corneal epithelium. The dystrophy was first described in 1967 and initially suspected to denote the same entity as the earlier-described Reis-Bucklers dystrophy, but following a study in 1995 by Kuchle et al. the two look-alike dystrophies were deemed separate disorders.

<span class="mw-page-title-main">Posterior polymorphous corneal dystrophy</span> Medical condition

Posterior polymorphous corneal dystrophy is a type of corneal dystrophy, characterised by changes in Descemet's membrane and endothelial layer. Symptoms mainly consist of decreased vision due to corneal edema. In some cases they are present from birth, other patients are asymptomatic. Histopathological analysis shows that the cells of endothelium have some characteristics of epithelial cells and have become multilayered. The disease was first described in 1916 by Koeppe as keratitis bullosa interna.

<span class="mw-page-title-main">Gelatinous drop-like corneal dystrophy</span> Medical condition

Gelatinous drop-like corneal dystrophy, also known as amyloid corneal dystrophy, is a rare form of corneal dystrophy. The disease was described by Nakaizumi as early as 1914.

<span class="mw-page-title-main">Lattice corneal dystrophy</span> Medical condition

Lattice corneal dystrophy type is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo Biber in 1890.

<span class="mw-page-title-main">Granular corneal dystrophy</span> Medical condition

Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.

<span class="mw-page-title-main">Congenital hereditary endothelial dystrophy</span> Medical condition

Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth.

<span class="mw-page-title-main">Herpes simplex keratitis</span> Medical condition

Herpetic simplex keratitis is a form of keratitis caused by recurrent herpes simplex virus (HSV) infection in the cornea.

<span class="mw-page-title-main">Corneal opacity</span> Medical condition

The human cornea is a transparent membrane which allows light to pass through it. The word corneal opacification literally means loss of normal transparency of cornea. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the stroma. Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. The term corneal blindness is commonly used to describe blindness due to corneal opacity.

References

  1. Online Mendelian Inheritance in Man, #121820: Corneal dystrophy, epithelial basement membrane; EBMD, archived from the original on 2017-04-30.
  2. 1 2 Chan, Colin (2015-02-18). Dry Eye: A Practical Approach. Springer. pp. 111–112. ISBN   9783662441060.
  3. John R. Martinelli, O.D. (22 March 2010). "When Should You Treat EBMD with PTK?". Review of Optometry. Retrieved 16 March 2017.
  4. 1 2 Online Mendelian Inheritance in Man (OMIM): 121820
  5. Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF (June 2006). "A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3". Hum. Mutat. 27 (6): 553–7. doi:10.1002/humu.20331. PMID   16652336. S2CID   41528624.
  6. Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK (December 2008). "The IC3D classification of the corneal dystrophies". Cornea . 27 (Suppl 2): S1–83. doi:10.1097/ICO.0b013e31817780fb. PMC   2866169 . PMID   19337156.
  7. David Verdier (2019-02-14). "Map-dot-fingerprint Dystrophy". eMedicine.{{cite journal}}: Cite journal requires |journal= (help)