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Thiel-Behnke corneal dystrophy(CDTB)

MedGen UID:
287070
Concept ID:
C1562894
Disease or Syndrome
Synonyms: CDTB; Corneal dystrophy honeycomb shaped; Corneal dystrophy of the Bowman layer type 2
SNOMED CT: Thiel-Behnke corneal dystrophy (417065002); CDB type II-Corneal dystrophy of Bowman's membrane, type II (417065002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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)
 
OMIM®: 602082
Orphanet: ORPHA98960

Definition

Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions (Thiel and Behnke, 1967). [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.
Corneal scarring
MedGen UID:
83899
Concept ID:
C0349702
Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
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.
Corneal scarring
MedGen UID:
83899
Concept ID:
C0349702
Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Meesmann corneal dystrophy 1
MedGen UID:
1684668
Concept ID:
C5231499
Disease or Syndrome
Meesmann corneal dystrophy-1 (MECD1) is a dominantly inherited disorder characterized by the presence of multitudinous microcysts within the anterior epithelium on slit lamp examination. The disorder can cause foreign body sensation and photophobia but is often asymptomatic and detected in the course of routine eye examination. Microcysts are evident even in asymptomatic individuals. Rarely, a more severe phenotype with corneal erosions and scarring can lead to significant loss of visual acuity requiring treatment by keratoplasty or corneal grafting. A subtle feature is the presence of gray serpiginous lines within the anterior epithelium (summary by Liao et al., 2011). Genetic Heterogeneity of Meesmann Corneal Dystrophy MECD2 (618767) is caused by mutation in the KRT3 gene (148043) on chromosome 12q13.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThiel-Behnke corneal dystrophy
Follow this link to review classifications for Thiel-Behnke corneal dystrophy in Orphanet.

Recent clinical studies

Etiology

Hsiao CC, Hou YC
Indian J Ophthalmol 2017 Apr;65(4):318-320. doi: 10.4103/ijo.IJO_683_16. PMID: 28513498Free PMC Article
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
Chang L, Zhiqun W, Shijing D, Chen Z, Qingfeng L, Li L, Xuguang S
Arch Ophthalmol 2009 May;127(5):641-4. doi: 10.1001/archophthalmol.2009.71. PMID: 19433713
Kobayashi A, Ijiri S, Ohta T, Sugiyama K
Cornea 2005 Nov;24(8):1029-30. doi: 10.1097/01.ico.0000160974.81200.40. PMID: 16227859
Sorour HM, Yee SB, Peterson NJ, Li FT, Macsai MS, Zhao XC, Yee RW
Cornea 2005 Jan;24(1):45-50. doi: 10.1097/01.ico.0000126442.61088.a8. PMID: 15604866

Diagnosis

Hsiao CC, Hou YC
Indian J Ophthalmol 2017 Apr;65(4):318-320. doi: 10.4103/ijo.IJO_683_16. PMID: 28513498Free PMC Article
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
Nakamura H, Li FT, Foltermann MO, Macsai M, Ma X, Zhao XC, Flaherty K, Yee RW
Cornea 2012 Nov;31(11):1217-22. doi: 10.1097/ICO.0b013e3181c32efd. PMID: 22965308
Chang L, Zhiqun W, Shijing D, Chen Z, Qingfeng L, Li L, Xuguang S
Arch Ophthalmol 2009 May;127(5):641-4. doi: 10.1001/archophthalmol.2009.71. PMID: 19433713
Kobayashi A, Ijiri S, Ohta T, Sugiyama K
Cornea 2005 Nov;24(8):1029-30. doi: 10.1097/01.ico.0000160974.81200.40. PMID: 16227859

Therapy

Skalicka P, Dudakova L, Palos M, Huna LJ, Evans CJ, Mahelkova G, Meliska M, Stopka T, Tuft S, Liskova P
Acta Ophthalmol 2019 Nov;97(7):e987-e992. Epub 2019 May 2 doi: 10.1111/aos.14123. PMID: 31044553
Hsiao CC, Hou YC
Indian J Ophthalmol 2017 Apr;65(4):318-320. doi: 10.4103/ijo.IJO_683_16. PMID: 28513498Free PMC Article
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, Ijiri S, Ohta T, Sugiyama K
Cornea 2005 Nov;24(8):1029-30. doi: 10.1097/01.ico.0000160974.81200.40. PMID: 16227859

Prognosis

Hsiao CC, Hou YC
Indian J Ophthalmol 2017 Apr;65(4):318-320. doi: 10.4103/ijo.IJO_683_16. PMID: 28513498Free PMC Article
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
Kobayashi A, Ijiri S, Ohta T, Sugiyama K
Cornea 2005 Nov;24(8):1029-30. doi: 10.1097/01.ico.0000160974.81200.40. PMID: 16227859
Sorour HM, Yee SB, Peterson NJ, Li FT, Macsai MS, Zhao XC, Yee RW
Cornea 2005 Jan;24(1):45-50. doi: 10.1097/01.ico.0000126442.61088.a8. PMID: 15604866

Clinical prediction guides

Underhaug J, Koldsø H, Runager K, Nielsen JT, Sørensen CS, Kristensen T, Otzen DE, Karring H, Malmendal A, Schiøtt B, Enghild JJ, Nielsen NC
Biochim Biophys Acta 2013 Dec;1834(12):2812-22. Epub 2013 Oct 12 doi: 10.1016/j.bbapap.2013.10.008. PMID: 24129074Free PMC Article
Nakamura H, Li FT, Foltermann MO, Macsai M, Ma X, Zhao XC, Flaherty K, Yee RW
Cornea 2012 Nov;31(11):1217-22. doi: 10.1097/ICO.0b013e3181c32efd. PMID: 22965308
Kobayashi A, Sugiyama K
Ophthalmology 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076. PMID: 17198850
Kobayashi A, Ijiri S, Ohta T, Sugiyama K
Cornea 2005 Nov;24(8):1029-30. doi: 10.1097/01.ico.0000160974.81200.40. PMID: 16227859
Yee RW, Sullivan LS, Lai HT, Stock EL, Lu Y, Khan MN, Blanton SH, Daiger SP
Genomics 1997 Nov 15;46(1):152-4. doi: 10.1006/geno.1997.5028. PMID: 9403072

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