Thiel–Behnke dystrophy
| Corneal dystrophy of Bowman layer, type II | |
|---|---|
| Classification and external resources | |
| OMIM | 602082 |
Thiel–Behnke dystrophy, or Corneal dystrophy of Bowman layer, type II, is a rare form of corneal dystrophy affecting the layer that supports corneal epithelium. The dystrophy was first described in 1967[1] and initially suspected to denote the same entity as the earlier-described Reis-Bucklers dystrophy, but following a study in 1995 by Kuchle et al. the two look-alike dystrophies were deemed separate disorders.[2]
Genetics
Some cases of it are linked to chromosome 10q24, others stem from a mutation in the TGFBI gene.[3]
Clinical presentation
To clarify whether Thiel–Behnke corneal dystrophy is a separate entity from Reis-Bucklers corneal dystrophy, Kuchle et al. (1995) examined 28 corneal specimens with a clinically suspected diagnosis of corneal dystrophy of the Bowman layer by light and electron microscopy and reviewed the literature and concluded that 2 distinct autosomal dominant corneal dystrophy of Bowman layer (CBD) exist and proposed the designation CDB type I (geographic or 'true' Reis-Bucklers dystrophy) and CDB type II (honeycomb-shaped or Thiel–Behnke dystrophy). Visual loss is significantly greater in CDB I, and recurrences after corneal transplantation seem to be earlier and more extensive in CDB I.[3]
See also
References
- ↑ Thiel HJ, Behnke H (1967). "[A hitherto unknown subepithelial hereditary corneal dystrophy]". Klin Monatsbl Augenheilkd (in German). 150 (6): 862–74. PMID 5301630.
- ↑ Küchle M, Green WR, Völcker HE, Barraquer J (July 1995). "Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel–Behnke types): a light and electron microscopic study of eight corneas and a review of the literature". Cornea. 14 (4): 333–54. doi:10.1097/00003226-199507000-00001. PMID 7671605.
- 1 2 Online Mendelian Inheritance in Man (OMIM) 602082