Epithelial basement membrane dystrophy
| Epithelial basement membrane dystrophy | |
|---|---|
| Other names: Map-dot-fingerprint dystrophy and Cogans's microcystic dystrophy | |
 | |
| Human eye anatomy (cornea- top left) | |
 | |
| Specialty | Ophthalmology |
Epithelial basement membrane dystrophy (EBMD), is a disorder of the eye that can cause pain and dryness.[1]
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
Individuals 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
In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified,[6][5] 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.[9][10]
Diagnosis
The evaluation for Epithelial basement membrane corneal dystrophy can be done via a slit lamp which allows the ophthalmologist to see the anterior ocular structures [11][12]
Treatment
Phototherapeutic keratectomy (PTK) done by an ophthalmologist can restore and preserve useful visual function for a significant period of time in individuals with anterior corneal dystrophies including EBMD.[5]
Eventually, retreatment with Phototherapeutic keratectomy may be needed[5]
See also
References
- ↑ "Epithelial basement membrane corneal dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 12 August 2021.
- ↑ Online Mendelian Inheritance in Man, #121820: Corneal dystrophy, epithelial basement membrane; EBMD, archived from the original on 2017-04-30.
- ↑ 3.0 3.1 Chan, Colin (2015-02-18). Dry Eye: A Practical Approach. Springer. pp. 111–112. ISBN 9783662441060. Archived from the original on 2016-06-23. Retrieved 2020-09-18.
- ↑ John R. Martinelli, O.D. (22 March 2010). "When Should You Treat EBMD with PTK?". Review of Optometry. Archived from the original on 17 March 2017. Retrieved 16 March 2017.
- ↑ 5.0 5.1 5.2 5.3 Online Mendelian Inheritance in Man (OMIM): 121820
- ↑ "TGFBI gene: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 3 August 2021. Retrieved 13 August 2021.
- ↑ 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.
- ↑ David Verdier (2019-02-14). "Map-dot-fingerprint Dystrophy". eMedicine. Archived from the original on 2020-12-02. Retrieved 2020-09-18.
{{cite journal}}: Cite journal requires|journal=(help) - ↑ Labbé, Antoine; Nicola, Raphaël De; Dupas, Bénédicte; Auclin, François; Baudouin, Christophe (1 August 2006). "Epithelial Basement Membrane Dystrophy: Evaluation with the HRT II Rostock Cornea Module". Ophthalmology. 113 (8): 1301–1308. doi:10.1016/j.ophtha.2006.03.050. ISSN 0161-6420. Archived from the original on 28 August 2021. Retrieved 17 August 2021.
- ↑ Roy and Fraunfelder's current ocular therapy (Sixth ed.). Philadelphia, Pa.: Elsevier Saunders. 2008. pp. 368–371. ISBN 978-1-4160-2447-7. Archived from the original on 28 August 2021. Retrieved 14 August 2021.
- ↑ "Slit-lamp exam: MedlinePlus Medical Encyclopedia". medlineplus.gov. Archived from the original on 19 July 2021. Retrieved 12 August 2021.
- ↑ "Epithelial basement membrane corneal dystrophy". NORD (National Organization for Rare Disorders). Archived from the original on 28 August 2021. Retrieved 12 August 2021.