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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): Gene(s) directly associated with this condition or phenotype.	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.

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Abnormality of the eye
Abnormality of the nervous system
- Photophobia
Constitutional symptom
- Ocular pain

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEpithelial recurrent erosion dystrophy

Superficial corneal dystrophy
- Epithelial recurrent erosion dystrophy

Follow this link to review classifications for Epithelial recurrent erosion dystrophy in Orphanet.

Professional guidelines

PubMed

Transepithelial phototherapeutic keratectomy for treatment-resistant recurrent corneal erosion syndrome.

Bizrah M, Shunmugam M, Ching G, Patel RP, Din N, Lin DTC, Holland SP
Graefes Arch Clin Exp Ophthalmol 2024 Oct;262(10):3253-3260. Epub 2024 Apr 15 doi: 10.1007/s00417-024-06482-1. PMID: 38619603 Free 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

See all (6)

Recent clinical studies

Etiology

Transepithelial phototherapeutic keratectomy for treatment-resistant recurrent corneal erosion syndrome.

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: 38359414 Free 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: 32181797 Free 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

Effects of tobacco smoking on human corneal wound healing.

Jetton JA, Ding K, Kim Y, Stone DU
Cornea 2014 May;33(5):453-6. doi: 10.1097/ICO.0000000000000100. PMID: 24619165

See all (16)

Diagnosis

IC3D Classification of Corneal Dystrophies-Edition 3.

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: 32181797 Free 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

See all (18)

Therapy

Transepithelial phototherapeutic keratectomy for treatment-resistant recurrent corneal erosion syndrome.

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: 25136628 Free 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

See all (9)

Prognosis

Transepithelial phototherapeutic keratectomy for treatment-resistant recurrent corneal erosion syndrome.

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: 32181797 Free 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: 27309958 Free 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

See all (7)

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: 32181797 Free 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

See all (6)

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Epithelial recurrent erosion dystrophy(ERED)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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