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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.
 
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.
Palpebral edema
MedGen UID:
57877
Concept ID:
C0162285
Pathologic Function
Edema in the region of the eyelids.
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.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Corneal erosion
MedGen UID:
97882
Concept ID:
C0392163
Disease or Syndrome
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

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

Recent clinical studies

Etiology

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
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
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
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
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

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
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
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
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
Møller HU
Acta Ophthalmol (Copenh) 1989 Dec;67(6):678-84. doi: 10.1111/j.1755-3768.1989.tb04401.x. PMID: 2694746

Therapy

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
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
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
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

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
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
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
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
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

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
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
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
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

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