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Thiel-Behnke corneal dystrophy

Disease definition

Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.

ORPHA:98960

Classification level: Disorder
  • Synonym(s):
    • Anterior limiting membrane dystrophy type 2
    • Anterior limiting membrane dystrophy type II
    • Corneal dystrophy of Bowman layer type 2
    • Corneal dystrophy of Bowman layer type II
    • Curly fiber corneal dystrophy
    • Honeycomb corneal dystrophy
    • TBCD
    • Waardenburg-Jonker corneal dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Childhood, Adult
  • ICD-10: H18.5
  • ICD-11: 9A70.Y
  • OMIM: 602082
  • UMLS: C1562894
  • MeSH: C535942
  • GARD: 9275
  • MedDRA: -

Summary

Epidemiology

Prevalence of this form of corneal dystrophy is not known. Cases have been reported in Germany, the USA and in other countries.

Clinical description

Corneal erosions develop in the first and second decade of life and cause ocular discomfort and pain. The erosions recur and vision gradually becomes impaired.

Etiology

Thiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBI gene (5q31), like Reis-Bücklers corneal dystrophy. However, there appears to be genetic heterogeneity as another locus has also been identified on chromosome 10 (10q23-q24).

Diagnostic methods

Histological examinations reveal a variable thickness of the corneal epithelium. The epithelial basal lamina and Bowman layer display variable degenerative changes. Irregular subepithelial collagenous tissue is also found.

Differential diagnosis

TBCD is clinically similar to Reis-Bücklers corneal dystrophy (RBCD, see this term), but generally has a less severe course. Tissue examination or molecular genetic analysis can be used to differentiate TBCD and RBCD.

Genetic counseling

This entity has an autosomal dominant mode of inheritance.

Management and treatment

The pathologic corneal tissue can be excised surgically or with an eximer laser.

Expert reviewer(s):  Dr Gordon KLINTWORTH - Last update: May 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Polski (2012, pdf) Polski (2012)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.