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Björn Hammar, MD, PhD. Photo.

Björn Hammar

Specialist physician

Björn Hammar, MD, PhD. Photo.

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

Author

  • Björn Hammar
  • Erik Bjorck
  • Helena Lind
  • Kristina Lagerstedt
  • Anette Dellby
  • Per Fagerholm

Summary, in English

Purpose: To describe the phenotype of an autosomal-dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and clinical resemblance. Methods: We describe the medical history and clinical findings in individuals from a seven-generation family with recurrent corneal erosions. A total of 43 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and polymorphic microsatellite markers were analysed to study haplotypes surrounding genes causing corneal dystrophies with similar phenotypes. Results: Erosive symptoms usually lasted for between 1 and 10 days. By the age of 7 almost all of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity from the late 20s, but all examined individuals had developed subepithelial fibrosis by the age of 37. The fibrosis generally started in the mid periphery and was followed in some family members by central fibrosis and the development of gelatinous superficial elevations. Only a marginal reduction of visual acuity was seen in a few individuals. The affected individuals did not share haplotypes for genetic microsatellite markers surrounding genes that are known to cause autosomal-dominant corneal dystrophies. Conclusion: We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity.

Department/s

  • Ophthalmology, Lund

Publishing year

2009

Language

English

Pages

659-665

Publication/Series

Acta Ophthalmologica

Volume

87

Issue

6

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Ophthalmology

Keywords

  • recurrent
  • hereditary
  • corneal opacities
  • cornea
  • corneal dystrophies
  • erosion

Status

Published

ISBN/ISSN/Other

  • ISSN: 1755-3768