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

Hammar, Björn LU ; Bjorck, Erik; Lind, Helena; Lagerstedt, Kristina; Dellby, Anette and Fagerholm, Per (2009) In Acta Ophthalmologica 87(6). p.659-665
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
recurrent, hereditary, corneal opacities, cornea, corneal dystrophies, erosion
in
Acta Ophthalmologica
volume
87
issue
6
pages
659 - 665
publisher
Wiley-Blackwell
external identifiers
  • wos:000269350500012
  • scopus:69449097149
ISSN
1755-3768
DOI
10.1111/j.1755-3768.2008.01308.x
language
English
LU publication?
yes
id
64b15abf-ba1f-413e-ae97-b122014ca24b (old id 1476846)
date added to LUP
2009-09-24 11:22:45
date last changed
2017-10-01 03:54:29
@article{64b15abf-ba1f-413e-ae97-b122014ca24b,
  abstract     = {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.},
  author       = {Hammar, Björn and Bjorck, Erik and Lind, Helena and Lagerstedt, Kristina and Dellby, Anette and Fagerholm, Per},
  issn         = {1755-3768},
  keyword      = {recurrent,hereditary,corneal opacities,cornea,corneal dystrophies,erosion},
  language     = {eng},
  number       = {6},
  pages        = {659--665},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Ophthalmologica},
  title        = {Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis},
  url          = {http://dx.doi.org/10.1111/j.1755-3768.2008.01308.x},
  volume       = {87},
  year         = {2009},
}