Thiel Behnke corneal dystrophy

Classification according to ICD-10
H18.5	Hereditary corneal dystrophies
ICD-10 online (WHO version 2019)

The Thiel Behnke dystrophy (TBCD) is a very rare congenital form of a corneal dystrophy with honeycomb-like opacities superficially in the cornea .

Synonyms are: corneal dystrophy of Bowman's lamella type 2; Corneal dystrophy with coiled filaments; Anterior limiting membrane dystrophy type II; Honeycomb corneal dystrophy; Corneal dystrophy Waardenburg-Jonker

The name refers to the authors of a description from 1967 by the German ophthalmologist Hans-Jürgen Thiel and human geneticist Horst Behnke.

Originally the disease was regarded as identical to Reis-Bücklers corneal dystrophy , but in 1995 it was defined by M. Kuchle and colleagues as separate entities.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

Of the disease are largely mutations in TGFBI - gene on chromosome 5 locus q31.1 based encoding keratoepithelin. Another locus was mapped to chromosome 10 (q23-q24).

Clinical manifestations

Clinical criteria are:

honeycomb-like superficial clouding of the cornea
increasing visual deterioration

Corneal erosions during the first two decades of life with pain, recurrent

Differential diagnosis

The Reis-Bücklers corneal dystrophy is to be differentiated, usually a milder course of TBCD.

history

The Waadenburg-Jonkers syndrome , which was initially regarded as an independent disease and described by the Dutch ophthalmologists Petrus Johannes Waardenburg and Garrit Hendrik Jonkers in 1961, is now regarded as a synonym for TBCD.

literature

PB Baenninger, V. Reichmuth: Topography-guided transepithelial photorefractive keratectomy (cTEN) in a Thiel-Behnke dystrophy. In: Clinical monthly sheets for ophthalmology. Vol. 231, No. 4, April 2014, pp. 329-330, doi: 10.1055 / s-0034-1368283 , PMID 24771160 .
W. Lisch, T. Kivelä: Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy. In: Cornea. Vol. 32, No. 12, December 2013, pp. E192 – e193, doi: 10.1097 / ICO.0b013e3182a73865 , PMID 24113370 .
M. Amm: A successful therapy method for Thiel-Behnke dystrophy and its relapses. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Vol. 96, No. 8, August 1999, pp. 489-493, PMID 10509078 .

Individual evidence

↑ ^a ^b ^c ^d ^e Thiel-Behnke corneal dystrophy. In: Orphanet (Rare Disease Database).
↑ HJ Thiel, H. Behnke: A previously unknown subepithelial hereditary corneal dystrophy. In: Klinische Monatsblätter Augenheilkunde Vol. 150, No. 6, 1967, pp. 862-874, PMID 5301630 .
^ M Küchle, WR Green, HE Völcker, J. Barraquer: 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. In: Cornea. Vol. 14, No. 4, July 1995, pp. 333-354, PMID 7671605 (review).
↑ Who named it
↑ Corneal dystrophy, Thiel-Behnke type. In: Online Mendelian Inheritance in Man . (English)
^ PJ Waardenburg, GH Jonkers: A specific type of dominant progressive dystrophy of the cornea, developing after birth. In: Acta Ophthalmologica, Copenhagen, 1961, Vol. 39: pp. 919-923.
↑ Waadenburg-Jonkers syndrome
↑ J. Weiss, H. Møller, W. Lisch, S. Kinoshita, A. Aldave, M. Belin, T. Kivelä, M. Busin, F. Munier, B. Seitz, J. Sutphin, C. Bredrup, M Mannis, C. Rapuano, G. Rij, E. Kim, G. Klintworth: IC³D Classification of Corneal Dystrophies. In: Clinical monthly sheets for ophthalmology. Vol. 228, 2011, p. S1, doi: 10.1055 / s-0029-1245895 .

[Orpha-1] Thiel-Behnke corneal dystrophy. In: Orphanet (Rare Disease Database).

[2] HJ Thiel, H. Behnke: A previously unknown subepithelial hereditary corneal dystrophy. In: Klinische Monatsblätter Augenheilkunde Vol. 150, No. 6, 1967, pp. 862-874, PMID 5301630 .

[3] M Küchle, WR Green, HE Völcker, J. Barraquer: 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. In: Cornea. Vol. 14, No. 4, July 1995, pp. 333-354, PMID 7671605 (review).

[who-4] Who named it

[5] Corneal dystrophy, Thiel-Behnke type. In: Online Mendelian Inheritance in Man . (English)

[6] PJ Waardenburg, GH Jonkers: A specific type of dominant progressive dystrophy of the cornea, developing after birth. In: Acta Ophthalmologica, Copenhagen, 1961, Vol. 39: pp. 919-923.

[7] Waadenburg-Jonkers syndrome

[8] J. Weiss, H. Møller, W. Lisch, S. Kinoshita, A. Aldave, M. Belin, T. Kivelä, M. Busin, F. Munier, B. Seitz, J. Sutphin, C. Bredrup, M Mannis, C. Rapuano, G. Rij, E. Kim, G. Klintworth: IC³D Classification of Corneal Dystrophies. In: Clinical monthly sheets for ophthalmology. Vol. 228, 2011, p. S1, doi: 10.1055 / s-0029-1245895 .