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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
Show allHide all

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

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
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
Treatment of Reis-Bücklers' corneal dystrophy by removal of subepithelial fibrous tissue.
Wood TO, Fleming JC, Dotson RS, Cotten MS
Am J Ophthalmol 1978 Mar;85(3):360-2. doi: 10.1016/s0002-9394(14)77730-x. PMID: 306753

Diagnosis

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
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
Li D, Qi Y, Wang L, Lin H, Zhou N, Zhao L
Mol Vis 2008 Jul 11;14:1298-302. PMID: 18636123Free PMC Article
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.
Okada M, Yamamoto S, Tsujikawa M, Watanabe H, Inoue Y, Maeda N, Shimomura Y, Nishida K, Quantock AJ, Kinoshita S, Tano Y
Am J Ophthalmol 1998 Oct;126(4):535-42. doi: 10.1016/s0002-9394(98)00135-4. PMID: 9780098
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

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

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
Surgical management of Reis-Bücklers' corneal dystrophy.
Schwartz MF, Taylor HR
Cornea 1985-1986;4(2):100-7. PMID: 3878267
Treatment of Reis-Bücklers' corneal dystrophy by removal of subepithelial fibrous tissue.
Wood TO, Fleming JC, Dotson RS, Cotten MS
Am J Ophthalmol 1978 Mar;85(3):360-2. doi: 10.1016/s0002-9394(14)77730-x. PMID: 306753

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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      Related literature resources in PubMed
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