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Reis-Bucklers corneal dystrophy(CDRB)

MedGen UID:
83284
•Concept ID:
C0339278
•
Disease or Syndrome
Synonyms: CDRB; Corneal dystrophy geographic; Corneal Dystrophy of Bowman Layer, Type 1; Corneal dystrophy Reis Bucklers type; GRANULAR CORNEAL DYSTROPHY, TYPE III; Reis Bucklers dystrophy; Reis-Bucklers' corneal dystrophy
SNOMED CT: CDB type I corneal dystrophy (231930000); Reis-Bucklers' corneal dystrophy (231930000)
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)
 
Monarch Initiative: MONDO:0012043
OMIM®: 608470
Orphanet: ORPHA98961

Definition

Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by Tanhehco et al., 2006). [from OMIM]

Clinical features

From HPO
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
Palpebral edema
MedGen UID:
57877
•Concept ID:
C0162285
•
Pathologic Function
Edema in the region of the eyelids.
See: Feature record | Search on this feature
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
Corneal opacity
MedGen UID:
40485
•Concept ID:
C0010038
•
Finding
A reduction of corneal clarity.
See: Feature record | Search on this feature
Strabismus
MedGen UID:
21337
•Concept ID:
C0038379
•
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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
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
Opacification of the corneal stroma
MedGen UID:
602191
•Concept ID:
C0423250
•
Finding
Reduced transparency of the stroma of cornea.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReis-Bucklers corneal dystrophy
Follow this link to review classifications for Reis-Bucklers corneal dystrophy in Orphanet.

Professional guidelines

PubMed

Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.
Wilson SE
J Ocul Pharmacol Ther 2023 Apr;39(3):191-206. Epub 2023 Mar 6 doi: 10.1089/jop.2022.0174. PMID: 36877777Free PMC Article

Recent clinical studies

Etiology

Anterior segment optical coherence tomography for superficial keratectomy.
Wang ZW, Yin XF, Wang CX, Wang HZ, Zhou SY
Photodiagnosis Photodyn Ther 2024 Aug;48:104237. Epub 2024 Jun 12 doi: 10.1016/j.pdpdt.2024.104237. PMID: 38871017
Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.
Li D, Tian LE, Wang X, Zhang F, Liu T, Dong Y, Lin P, Li D, Sun D, Chen M
Am J Ophthalmol 2024 Oct;266:37-45. Epub 2024 May 11 doi: 10.1016/j.ajo.2024.05.006. PMID: 38735449
Sequential Customized Therapeutic Keratectomy for Reis-Bücklers' Corneal Dystrophy: Long-term Follow-up.
Vinciguerra P, Vinciguerra R, Randleman JB, Torres I, Morenghi E, Camesasca FI
J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01. PMID: 30296329
In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
Phototherapeutic keratectomy for Reis Bucklers' corneal dystrophy.
Rogers C, Cohen P, Lawless M
Aust N Z J Ophthalmol 1993 Nov;21(4):247-50. doi: 10.1111/j.1442-9071.1993.tb00963.x. PMID: 8148141

Diagnosis

Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.
Li D, Tian LE, Wang X, Zhang F, Liu T, Dong Y, Lin P, Li D, Sun D, Chen M
Am J Ophthalmol 2024 Oct;266:37-45. Epub 2024 May 11 doi: 10.1016/j.ajo.2024.05.006. PMID: 38735449
Clinical and Optical Coherence Tomography Correlation of Recurrence Patterns After Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty in Reis-Bucklers Corneal Dystrophy.
Chaurasia S, Mishra DK, Murthy S, Das R, Edward DP, Ramappa M
Cornea 2024 Apr 1;43(4):459-465. Epub 2023 Sep 14 doi: 10.1097/ICO.0000000000003387. PMID: 37713662
Reis-Bücklers corneal dystrophy: a reappraisal using in vivo and ex vivo imaging techniques.
Liang Q, Pan Z, Sun X, Baudouin C, Labbé A
Ophthalmic Res 2014;51(4):187-95. Epub 2014 Mar 20 doi: 10.1159/000358805. PMID: 24662393
TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.
Liang Q, Sun X, Jin X
Ophthalmic Physiol Opt 2012 Jan;32(1):74-80. Epub 2011 Sep 8 doi: 10.1111/j.1475-1313.2011.00867.x. PMID: 21899585
Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?
Møller HU
Acta Ophthalmol (Copenh) 1989 Dec;67(6):678-84. doi: 10.1111/j.1755-3768.1989.tb04401.x. PMID: 2694746

Therapy

Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.
Li D, Tian LE, Wang X, Zhang F, Liu T, Dong Y, Lin P, Li D, Sun D, Chen M
Am J Ophthalmol 2024 Oct;266:37-45. Epub 2024 May 11 doi: 10.1016/j.ajo.2024.05.006. PMID: 38735449
Sequential Customized Therapeutic Keratectomy for Reis-Bücklers' Corneal Dystrophy: Long-term Follow-up.
Vinciguerra P, Vinciguerra R, Randleman JB, Torres I, Morenghi E, Camesasca FI
J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01. PMID: 30296329
Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series.
Steger B, Romano V, Biddolph S, Willoughby CE, Batterbury M, Kaye SB
Cornea 2016 Jan;35(1):6-13. doi: 10.1097/ICO.0000000000000665. PMID: 26509759
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy.
Hieda O, Kawasaki S, Wakimasu K, Yamasaki K, Inatomi T, Kinoshita S
Am J Ophthalmol 2013 Jan;155(1):66-72.e1. Epub 2012 Sep 8 doi: 10.1016/j.ajo.2012.06.022. PMID: 22967865
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.
Fujiki K, Hotta Y, Nakayasu K, Yamaguchi T, Kato T, Uesugi Y, Ha NT, Endo S, Ishida N, Lu WN, Kanai A
Cornea 2000 Nov;19(6):842-5. doi: 10.1097/00003226-200011000-00015. PMID: 11095060

Prognosis

Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.
Li D, Tian LE, Wang X, Zhang F, Liu T, Dong Y, Lin P, Li D, Sun D, Chen M
Am J Ophthalmol 2024 Oct;266:37-45. Epub 2024 May 11 doi: 10.1016/j.ajo.2024.05.006. PMID: 38735449
Sequential Customized Therapeutic Keratectomy for Reis-Bücklers' Corneal Dystrophy: Long-term Follow-up.
Vinciguerra P, Vinciguerra R, Randleman JB, Torres I, Morenghi E, Camesasca FI
J Refract Surg 2018 Oct 1;34(10):682-688. doi: 10.3928/1081597X-20180829-01. PMID: 30296329
Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy.
Hieda O, Kawasaki S, Wakimasu K, Yamasaki K, Inatomi T, Kinoshita S
Am J Ophthalmol 2013 Jan;155(1):66-72.e1. Epub 2012 Sep 8 doi: 10.1016/j.ajo.2012.06.022. PMID: 22967865
In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
Phototherapeutic keratectomy for Reis Bucklers' corneal dystrophy.
Rogers C, Cohen P, Lawless M
Aust N Z J Ophthalmol 1993 Nov;21(4):247-50. doi: 10.1111/j.1442-9071.1993.tb00963.x. PMID: 8148141

Clinical prediction guides

Reis-Bücklers corneal dystrophy: a reappraisal using in vivo and ex vivo imaging techniques.
Liang Q, Pan Z, Sun X, Baudouin C, Labbé A
Ophthalmic Res 2014;51(4):187-95. Epub 2014 Mar 20 doi: 10.1159/000358805. PMID: 24662393
In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.
Small KW, Mullen L, Barletta J, Graham K, Glasgow B, Stern G, Yee R
Am J Ophthalmol 1996 Apr;121(4):384-90. doi: 10.1016/s0002-9394(14)70434-9. PMID: 8604731
Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and Reis-Bücklers' corneal dystrophy.
Kömpf J, Ritter H, Lisch W, Weidle EG, Baur MP
Graefes Arch Clin Exp Ophthalmol 1989;227(6):538-40. doi: 10.1007/BF02169448. PMID: 2625210

Supplemental Content

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    Related information

    • 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
    • PMC Articles
      Related information in PubMed Central Links
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