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Epithelial recurrent erosion dystrophy(ERED)

MedGen UID:
342263
•Concept ID:
C1852551
•
Disease or Syndrome
Synonyms: CORNEAL EROSIONS, RECURRING HEREDITARY; ERED
SNOMED CT: Epithelial recurrent erosion dystrophy of cornea (715908008); Epithelial recurrent erosion dystrophy (715908008); Dystrophia Helsinglandica (715908008); Dystrophia Smolandiensis (715908008); Recurrent hereditary corneal erosions (715908008)
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): COL17A1 (10q25.1)
 
Monarch Initiative: MONDO:0007381
OMIM®: 122400
Orphanet: ORPHA293381

Definition

Epithelial recurrent erosion dystrophy (ERED) is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016). [from OMIM]

Clinical features

From HPO
Ocular pain
MedGen UID:
57490
•Concept ID:
C0151827
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
See: Feature record | Search on this feature
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Epiphora
MedGen UID:
57518
•Concept ID:
C0152227
•
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
See: Feature record | Search on this feature
Corneal erosion
MedGen UID:
97882
•Concept ID:
C0392163
•
Disease or Syndrome
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

Autologous Platelet-rich Plasma Eye Drops in the Treatment of Recurrent Corneal Erosions.
Lee JH, Kim MJ, Ha SW, Kim HK
Korean J Ophthalmol 2016 Apr;30(2):101-7. Epub 2016 Mar 25 doi: 10.3341/kjo.2016.30.2.101. PMID: 27051257Free PMC Article
Phototherapeutic keratectomy (PTK) for treatment of recurrent corneal erosion: Correlation between etiology and prognosis - prospective longitudinal study.
Dedes W, Faes L, Schipper I, Bachmann LM, Thiel MA
Graefes Arch Clin Exp Ophthalmol 2015 Oct;253(10):1745-9. Epub 2015 Apr 22 doi: 10.1007/s00417-015-2990-6. PMID: 25900814
Management of recurrent corneal erosions: are we getting better?
Mencucci R, Favuzza E
Br J Ophthalmol 2014 Feb;98(2):150-1. doi: 10.1136/bjophthalmol-2013-303749. PMID: 24421300

Recent clinical studies

Etiology

IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.
Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797Free PMC Article
Long-Term Outcomes of Epithelial Debridement and Diamond Burr Polishing for Corneal Epithelial Irregularity and Recurrent Corneal Erosion.
Vo RC, Chen JL, Sanchez PJ, Yu F, Aldave AJ
Cornea 2015 Oct;34(10):1259-65. doi: 10.1097/ICO.0000000000000554. PMID: 26203746
Phototherapeutic keratectomy (PTK) for treatment of recurrent corneal erosion: Correlation between etiology and prognosis - prospective longitudinal study.
Dedes W, Faes L, Schipper I, Bachmann LM, Thiel MA
Graefes Arch Clin Exp Ophthalmol 2015 Oct;253(10):1745-9. Epub 2015 Apr 22 doi: 10.1007/s00417-015-2990-6. PMID: 25900814
Clinical presentation and causes of recurrent corneal erosion syndrome: review of 100 patients.
Diez-Feijóo E, Grau AE, Abusleme EI, Durán JA
Cornea 2014 Jun;33(6):571-5. doi: 10.1097/ICO.0000000000000111. PMID: 24699561

Diagnosis

IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT
Acta Ophthalmol 2024 May;102(3):296-305. Epub 2023 Jun 8 doi: 10.1111/aos.15716. PMID: 37289141
Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.
Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797Free PMC Article
Clinical and genetic update of corneal dystrophies.
Lisch W, Weiss JS
Exp Eye Res 2019 Sep;186:107715. Epub 2019 Jul 10 doi: 10.1016/j.exer.2019.107715. PMID: 31301286
Recurrent corneal erosion syndrome.
Lin SR, Aldave AJ, Chodosh J
Br J Ophthalmol 2019 Sep;103(9):1204-1208. Epub 2019 Feb 13 doi: 10.1136/bjophthalmol-2019-313835. PMID: 30760455

Therapy

Recurrent corneal erosion syndrome.
Lin SR, Aldave AJ, Chodosh J
Br J Ophthalmol 2019 Sep;103(9):1204-1208. Epub 2019 Feb 13 doi: 10.1136/bjophthalmol-2019-313835. PMID: 30760455
Phototherapeutic keratectomy (PTK) for treatment of recurrent corneal erosion: Correlation between etiology and prognosis - prospective longitudinal study.
Dedes W, Faes L, Schipper I, Bachmann LM, Thiel MA
Graefes Arch Clin Exp Ophthalmol 2015 Oct;253(10):1745-9. Epub 2015 Apr 22 doi: 10.1007/s00417-015-2990-6. PMID: 25900814
Evaluation of the efficacy of 50% autologous serum eye drops in different ocular surface pathologies.
Semeraro F, Forbice E, Braga O, Bova A, Di Salvatore A, Azzolini C
Biomed Res Int 2014;2014:826970. Epub 2014 Jul 22 doi: 10.1155/2014/826970. PMID: 25136628Free PMC Article
Clinical presentation and causes of recurrent corneal erosion syndrome: review of 100 patients.
Diez-Feijóo E, Grau AE, Abusleme EI, Durán JA
Cornea 2014 Jun;33(6):571-5. doi: 10.1097/ICO.0000000000000111. PMID: 24699561
Anterior stromal puncture for the treatment of recurrent corneal erosion syndrome: patient clinical features and outcomes.
Avni Zauberman N, Artornsombudh P, Elbaz U, Goldich Y, Rootman DS, Chan CC
Am J Ophthalmol 2014 Feb;157(2):273-279.e1. Epub 2013 Oct 22 doi: 10.1016/j.ajo.2013.10.005. PMID: 24439438

Prognosis

Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.
Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797Free PMC Article
Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.
Lin BR, Le DJ, Chen Y, Wang Q, Chung DD, Frausto RF, Croasdale C, Yee RW, Hejtmancik FJ, Aldave AJ
PLoS One 2016;11(6):e0157418. Epub 2016 Jun 16 doi: 10.1371/journal.pone.0157418. PMID: 27309958Free PMC Article
Long-Term Outcomes of Epithelial Debridement and Diamond Burr Polishing for Corneal Epithelial Irregularity and Recurrent Corneal Erosion.
Vo RC, Chen JL, Sanchez PJ, Yu F, Aldave AJ
Cornea 2015 Oct;34(10):1259-65. doi: 10.1097/ICO.0000000000000554. PMID: 26203746
Phototherapeutic keratectomy (PTK) for treatment of recurrent corneal erosion: Correlation between etiology and prognosis - prospective longitudinal study.
Dedes W, Faes L, Schipper I, Bachmann LM, Thiel MA
Graefes Arch Clin Exp Ophthalmol 2015 Oct;253(10):1745-9. Epub 2015 Apr 22 doi: 10.1007/s00417-015-2990-6. PMID: 25900814
Anterior stromal puncture for the treatment of recurrent corneal erosion syndrome: patient clinical features and outcomes.
Avni Zauberman N, Artornsombudh P, Elbaz U, Goldich Y, Rootman DS, Chan CC
Am J Ophthalmol 2014 Feb;157(2):273-279.e1. Epub 2013 Oct 22 doi: 10.1016/j.ajo.2013.10.005. PMID: 24439438

Clinical prediction guides

Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.
Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797Free PMC Article
Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.
Lin BR, Le DJ, Chen Y, Wang Q, Chung DD, Frausto RF, Croasdale C, Yee RW, Hejtmancik FJ, Aldave AJ
PLoS One 2016;11(6):e0157418. Epub 2016 Jun 16 doi: 10.1371/journal.pone.0157418. PMID: 27309958Free PMC Article
Anterior stromal puncture for the treatment of recurrent corneal erosion syndrome: patient clinical features and outcomes.
Avni Zauberman N, Artornsombudh P, Elbaz U, Goldich Y, Rootman DS, Chan CC
Am J Ophthalmol 2014 Feb;157(2):273-279.e1. Epub 2013 Oct 22 doi: 10.1016/j.ajo.2013.10.005. PMID: 24439438
A randomised controlled trial of alcohol delamination and phototherapeutic keratectomy for the treatment of recurrent corneal erosion syndrome.
Chan E, Jhanji V, Constantinou M, Amiel H, Snibson GR, Vajpayee RB
Br J Ophthalmol 2014 Feb;98(2):166-71. Epub 2013 Jun 12 doi: 10.1136/bjophthalmol-2013-303276. PMID: 23759442
Changes of clinical manifestation of granular corneal deposits because of recurrent corneal erosion in granular corneal dystrophy types 1 and 2.
Han KE, Chung WS, Kim T, Kim KS, Kim TI, Kim EK
Cornea 2013 May;32(5):e113-20. doi: 10.1097/ICO.0b013e3182700620. PMID: 23132456

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