Epithelial basement membrane dystrophy

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Epithelial basement membrane dystrophy
Other namesMap-dot-fingerprint dystrophy and Cogans's microcystic dystrophy or Cogan's dystrophy
Cornea.png
A schematic diagram of the human eye
Specialty Ophthalmology
Symptoms Irregular astigmatism, misty vision, monocular diplopia and visual distortion
DurationLifelong
Risk factors Recurrent corneal erosion, dry eyes
TreatmentSurgical and non-surgical options available

Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye that can cause pain and dryness. EBMD, also known as map-dot-fingerprint dystrophy and Cogan microcystic epithelial dystrophy, is a corneal epithelial disease that may result in recurrent corneal erosions, irregular corneal astigmatism, and decreased vision. [1]

Contents

It is sometimes included in the group of corneal dystrophies. [2] 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. [3]

Signs and symptoms

Patients may complain of severe problems with dry eyes, or with visual obscurations. [4] It can also be asymptomatic, and only discovered because of subtle lines and marks seen during an eye exam. [3]

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. [5]

Pathophysiology

According to research published in 2006, in some families autosomal dominant inheritance and point mutations in the transforming growth factor, beta-induced (TGFBI) gene encoding keratoepithelin have been identified, [6] but according to the International Committee for Classification of Corneal Diseases (IC3D) [7] 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. [8]

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.

For patients with granular corneal dystrophy type 2 (GCD2) who have the TGFBI p.(R124H) mutation, complications have been observed following LASIK surgery. [9]

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. [5]

See also

Related Research Articles

<span class="mw-page-title-main">Cornea</span> Transparent front layer of the eye

The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres. The cornea can be reshaped by surgical procedures such as LASIK.

<span class="mw-page-title-main">Photorefractive keratectomy</span> Refractive eye surgery procedure

Photorefractive keratectomy (PRK) and laser-assisted sub-epithelial keratectomy (LASEK) are laser eye surgery procedures intended to correct a person's vision, reducing dependency on glasses or contact lenses. LASEK and PRK permanently change the shape of the anterior central cornea using an excimer laser to ablate a small amount of tissue from the corneal stroma at the front of the eye, just under the corneal epithelium. The outer layer of the cornea is removed prior to the ablation.

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

Fuchs dystrophy, also referred to as Fuchs endothelial corneal dystrophy (FECD) and Fuchs endothelial dystrophy (FED), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men. Although early signs of Fuchs dystrophy are sometimes seen in people in their 30s and 40s, the disease rarely affects vision until people reach their 50s and 60s.

<span class="mw-page-title-main">Recurrent corneal erosion</span> Separation of the cellular layers of the cornea of the eye

Recurrent corneal erosion (RCE) 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).

<span class="mw-page-title-main">Descemet's membrane</span> Membrane in the cornea of the eye

Descemet's membrane is the basement membrane that lies between the corneal proper substance, also called stroma, and the endothelial layer of the cornea. It is composed of different kinds of collagen than the stroma. The endothelial layer is located at the posterior of the cornea. Descemet's membrane, as the basement membrane for the endothelial layer, is secreted by the single layer of squamous epithelial cells that compose the endothelial layer of the cornea.

<span class="mw-page-title-main">Corneal dystrophy</span> Clouding of the transparent cornea of the eye

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.

<span class="mw-page-title-main">Corneal epithelium</span> Outermost layer of the cornea

The corneal epithelium 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 from entering the epithelium and corneal stroma.

<span class="mw-page-title-main">Corneal ulcer</span> Inflammation of the cornea of the eye due to trauma or infection

Corneal ulcer, also called keratitis, is an inflammatory or, more seriously, infective condition of the cornea involving disruption of its epithelial layer with involvement of the corneal stroma. It is a common condition in humans particularly in the tropics and in farming. In developing countries, children afflicted by vitamin A deficiency are at high risk for corneal ulcer and may become blind in both eyes persisting throughout life. In ophthalmology, a corneal ulcer usually refers to having an infection, while the term corneal abrasion refers more to a scratch injury.

<span class="mw-page-title-main">TGFBI</span> Protein-coding gene in the species Homo sapiens

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.

<span class="mw-page-title-main">TACSTD2</span> Protein-coding gene in the species Homo sapiens

Tumor-associated calcium signal transducer 2, also known as Trop-2 and as epithelial glycoprotein-1 antigen (EGP-1) is a protein that in humans is encoded by the TACSTD2 gene.

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

Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal dystrophy and a keratin disease. MECD is characterized by the formation of microcysts in the outermost layer of the cornea, known as the anterior corneal epithelium. The anterior corneal epithelium also becomes fragile. This usually affects both eyes rather than a single eye and worsens over time. There are two phenotypes, Meesmann corneal dystrophy 1 (MECD1) and Meesmann corneal dystrophy 2 (MECD2), which affect the genes KRT3 and KRT12, respectively. A heterozygous mutation in either of these genes will lead to a single phenotype. Many with Meesmann corneal dystrophy are asymptomatic or experience mild symptoms.

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

Macular corneal dystrophy, also known as Fehr corneal dystrophy, is a rare pathological condition affecting the stroma of cornea first described by Arthur Groenouw in 1890. Signs are usually noticed in the first decade of life and progress afterwards, with opacities developing in the cornea and attacks of pain. This gradual opacification leads to visual impairment often requiring keratoplasty in the later decades of life.

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

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.

<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> Formation of opaque spots on the transparent cornea of the eye

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

Corneal opacification is a term used when the human cornea loses its transparency. 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. Cheung, Natalie; Shands, Philip; Ahmad, Ashraf; Daroszewski, Daniel; Jelineo, Shelley (2023-08-01). "Corneal Pathology and Cataract Surgery Considerations". Advances in Ophthalmology and Optometry. Advances in Ophthalmology and Optometry. 8 (1): 123–138. doi:10.1016/j.yaoo.2023.02.007. ISSN   2452-1760.
  2. Online Mendelian Inheritance in Man, #121820: Corneal dystrophy, epithelial basement membrane; EBMD, archived from the original on 2017-04-30.
  3. 1 2 Chan, Colin (2015-02-18). Dry Eye: A Practical Approach. Springer. pp. 111–112. ISBN   9783662441060.
  4. John R. Martinelli, O.D. (22 March 2010). "When Should You Treat EBMD with PTK?". Review of Optometry. Retrieved 16 March 2017.
  5. 1 2 Online Mendelian Inheritance in Man (OMIM): 121820
  6. 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.
  7. 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.
  8. Verdier, David D (2019-02-14). "Map-dot-fingerprint Dystrophy: Background, Pathophysiology, Epidemiology". Medscape Reference. Retrieved 2024-08-06.
  9. "Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy". Investigative Ophthalmology & Visual Science . 57 (13). 2016. doi:10.1167/iovs.16-19818.