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Epithelial basement membrane dystrophy(EBMD)

MedGen UID:
99275
•Concept ID:
C0521723
•
Disease or Syndrome
Synonyms: Corneal dystrophy, anterior basement membrane; Corneal dystrophy, Cogan type; Corneal dystrophy, epithelial basement membrane; CORNEAL DYSTROPHY, MICROCYSTIC; Corneal epithelial dystrophy; Map-dot-fingerprint corneal dystrophy; Map-dot-fingerprint dystrophy of cornea; Microcystic dystrophy of the cornea
SNOMED CT: Corneal epithelial and basement membrane dystrophy (373426005); EBMD - Epithelial basement membrane dystrophy (373426005); Epithelial basement membrane dystrophy (373426005); Cogan microcystic epithelial dystrophy (373426005); Anterior basement membrane dystrophy (373426005); Map-dot-fingerprint dystrophy (373426005); MDF - Map dot fingerprint dystrophy (373426005); Microscopic cystic corneal dystrophy (373426005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): TGFBI (5q31.1)
 
HPO: HP:0007690
Monarch Initiative: MONDO:0007375
OMIM®: 121820
Orphanet: ORPHA98956

Definition

Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006). [from OMIM]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
•Concept ID:
C0010036
•
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
See: Feature record | Search on this feature
Recurrent corneal erosions
MedGen UID:
56353
•Concept ID:
C0155119
•
Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Epithelial basement membrane dystrophy
MedGen UID:
99275
•Concept ID:
C0521723
•
Disease or Syndrome
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpithelial basement membrane dystrophy
Follow this link to review classifications for Epithelial basement membrane dystrophy in Orphanet.

Conditions with this feature

Epithelial basement membrane dystrophy
MedGen UID:
99275
•Concept ID:
C0521723
•
Disease or Syndrome
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).
See: Condition Record
Epithelial basement membrane dystrophy

Professional guidelines

PubMed

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.
Evans CJ, Davidson AE, Carnt N, Rojas López KE, Veli N, Thaung CM, Tuft SJ, Hardcastle AJ
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5407-5414. doi: 10.1167/iovs.16-19818. PMID: 27737463
Demographic patterns and treatment outcomes of patients with recurrent corneal erosions related to trauma and epithelial and bowman layer disorders.
Suri K, Kosker M, Duman F, Rapuano CJ, Nagra PK, Hammersmith KM
Am J Ophthalmol 2013 Dec;156(6):1082-1087.e2. Epub 2013 Sep 25 doi: 10.1016/j.ajo.2013.07.022. PMID: 24075431
Recurrent erosions of the cornea: epidemiology and treatment.
Reidy JJ, Paulus MP, Gona S
Cornea 2000 Nov;19(6):767-71. doi: 10.1097/00003226-200011000-00001. PMID: 11095047

Recent clinical studies

Etiology

Impact of epithelial basement membrane dystrophy and Salzmann nodular degeneration on biometry measurements.
Goerlitz-Jessen MF, Gupta PK, Kim T
J Cataract Refract Surg 2019 Aug;45(8):1119-1123. Epub 2019 Jun 4 doi: 10.1016/j.jcrs.2019.03.014. PMID: 31174985
Superficial keratectomy: indications and outcomes.
Bae SS, Chan CC
Can J Ophthalmol 2018 Dec;53(6):553-559. Epub 2018 Apr 4 doi: 10.1016/j.jcjo.2018.01.030. PMID: 30502977
LASIK and surface ablation in corneal dystrophies.
Woreta FA, Davis GW, Bower KS
Surv Ophthalmol 2015 Mar-Apr;60(2):115-22. Epub 2014 Aug 23 doi: 10.1016/j.survophthal.2014.08.003. PMID: 25307289
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study.
Germundsson J, Fagerholm P, Lagali N
Ophthalmology 2011 Mar;118(3):515-22. doi: 10.1016/j.ophtha.2010.07.003. PMID: 20869120
Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module.
Labbé A, Nicola RD, Dupas B, Auclin F, Baudouin C
Ophthalmology 2006 Aug;113(8):1301-8. doi: 10.1016/j.ophtha.2006.03.050. PMID: 16877069

Diagnosis

Superficial keratectomy: indications and outcomes.
Bae SS, Chan CC
Can J Ophthalmol 2018 Dec;53(6):553-559. Epub 2018 Apr 4 doi: 10.1016/j.jcjo.2018.01.030. PMID: 30502977
Fourier-domain optical coherence tomography imaging in corneal epithelial basement membrane dystrophy: a structural analysis.
El Sanharawi M, Sandali O, Basli E, Bouheraoua N, Ameline B, Goemaere I, Georgeon C, Hamiche T, Borderie V, Laroche L
Am J Ophthalmol 2015 Apr;159(4):755-63. Epub 2015 Jan 9 doi: 10.1016/j.ajo.2015.01.003. PMID: 25579644
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study.
Germundsson J, Fagerholm P, Lagali N
Ophthalmology 2011 Mar;118(3):515-22. doi: 10.1016/j.ophtha.2010.07.003. PMID: 20869120
Epithelial debridement and Bowman's layer polishing for visually significant epithelial irregularity and recurrent corneal erosions.
Aldave AJ, Kamal KM, Vo RC, Yu F
Cornea 2009 Dec;28(10):1085-90. doi: 10.1097/ICO.0b013e3181a166b9. PMID: 19730089
Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module.
Labbé A, Nicola RD, Dupas B, Auclin F, Baudouin C
Ophthalmology 2006 Aug;113(8):1301-8. doi: 10.1016/j.ophtha.2006.03.050. PMID: 16877069

Therapy

Phototherapeutic keratectomy versus epithelial debridement combined with anterior stromal puncture or diamond burr for recurrent corneal erosions.
Yang Y, Mimouni M, Trinh T, Sorkin N, Cohen E, Santaella G, Rootman DS, Chan CC, Slomovic AR
Can J Ophthalmol 2023 Jun;58(3):198-203. Epub 2022 Feb 22 doi: 10.1016/j.jcjo.2022.01.023. PMID: 35216957
Epithelial basement membrane dystrophy after femtosecond laser-assisted LASIK successfully treated with in vivo confocal microscopy-assisted photorefractive keratectomy.
Wu PY, Tsui MC, Chang CK, Chang HW, Chen WL
J Cataract Refract Surg 2020 Dec;46(12):e17-e19. doi: 10.1097/j.jcrs.0000000000000354. PMID: 32818358
Superficial keratectomy: indications and outcomes.
Bae SS, Chan CC
Can J Ophthalmol 2018 Dec;53(6):553-559. Epub 2018 Apr 4 doi: 10.1016/j.jcjo.2018.01.030. PMID: 30502977
LASIK and surface ablation in corneal dystrophies.
Woreta FA, Davis GW, Bower KS
Surv Ophthalmol 2015 Mar-Apr;60(2):115-22. Epub 2014 Aug 23 doi: 10.1016/j.survophthal.2014.08.003. PMID: 25307289
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study.
Germundsson J, Fagerholm P, Lagali N
Ophthalmology 2011 Mar;118(3):515-22. doi: 10.1016/j.ophtha.2010.07.003. PMID: 20869120

Prognosis

Optimizing the ocular surface prior to cataract surgery.
He X, Huang AS, Jeng BH
Curr Opin Ophthalmol 2022 Jan 1;33(1):9-14. doi: 10.1097/ICU.0000000000000814. PMID: 34698670
Impact of epithelial basement membrane dystrophy and Salzmann nodular degeneration on biometry measurements.
Goerlitz-Jessen MF, Gupta PK, Kim T
J Cataract Refract Surg 2019 Aug;45(8):1119-1123. Epub 2019 Jun 4 doi: 10.1016/j.jcrs.2019.03.014. PMID: 31174985
Superficial keratectomy: indications and outcomes.
Bae SS, Chan CC
Can J Ophthalmol 2018 Dec;53(6):553-559. Epub 2018 Apr 4 doi: 10.1016/j.jcjo.2018.01.030. PMID: 30502977
Pathologically reduced subbasal nerve density in epithelial basement membrane dystrophy is unaltered by phototherapeutic keratectomy treatment.
Germundsson J, Lagali N
Invest Ophthalmol Vis Sci 2014 Mar 25;55(3):1835-41. doi: 10.1167/iovs.13-12533. PMID: 24569577
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study.
Germundsson J, Fagerholm P, Lagali N
Ophthalmology 2011 Mar;118(3):515-22. doi: 10.1016/j.ophtha.2010.07.003. PMID: 20869120

Clinical prediction guides

Optimizing the ocular surface prior to cataract surgery.
He X, Huang AS, Jeng BH
Curr Opin Ophthalmol 2022 Jan 1;33(1):9-14. doi: 10.1097/ICU.0000000000000814. PMID: 34698670
Impact of epithelial basement membrane dystrophy and Salzmann nodular degeneration on biometry measurements.
Goerlitz-Jessen MF, Gupta PK, Kim T
J Cataract Refract Surg 2019 Aug;45(8):1119-1123. Epub 2019 Jun 4 doi: 10.1016/j.jcrs.2019.03.014. PMID: 31174985
Fourier-domain optical coherence tomography imaging in corneal epithelial basement membrane dystrophy: a structural analysis.
El Sanharawi M, Sandali O, Basli E, Bouheraoua N, Ameline B, Goemaere I, Georgeon C, Hamiche T, Borderie V, Laroche L
Am J Ophthalmol 2015 Apr;159(4):755-63. Epub 2015 Jan 9 doi: 10.1016/j.ajo.2015.01.003. PMID: 25579644
Pathologically reduced subbasal nerve density in epithelial basement membrane dystrophy is unaltered by phototherapeutic keratectomy treatment.
Germundsson J, Lagali N
Invest Ophthalmol Vis Sci 2014 Mar 25;55(3):1835-41. doi: 10.1167/iovs.13-12533. PMID: 24569577
Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module.
Labbé A, Nicola RD, Dupas B, Auclin F, Baudouin C
Ophthalmology 2006 Aug;113(8):1301-8. doi: 10.1016/j.ophtha.2006.03.050. PMID: 16877069

Supplemental Content

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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