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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
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:0011185
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
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Meesmann corneal dystrophy
MedGen UID:
83283
Concept ID:
C0339277
Disease or Syndrome
Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye.\n\nIn people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision.

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

Benbouchta Y, Cherkaoui Jaouad I, Tazi H, Elorch H, Ouhenach M, Zrhidri A, Sadki K, Sefiani A, Lyahyai J, Berraho A
BMC Med Genomics 2021 Jan 6;14(1):9. doi: 10.1186/s12920-020-00861-3. PMID: 33407479Free PMC Article
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
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

Wang L, Zhao C, Zheng T, Zhang Y, Liu H, Wang X, Tang X, Zhao B, Liu P
Autophagy 2022 Apr;18(4):765-782. Epub 2021 Aug 17 doi: 10.1080/15548627.2021.1955469. PMID: 34403298Free 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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