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A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

Hammar, Björn LU ; Bjorck, Erik; Lagerstedt, Kristina; Dellby, Anette and Fagerholm, Per (2008) In Acta Ophthalmologica 86(7). p.758-763
Abstract
Purpose: The aim of this study was to characterize the phenotype in a large family with autosomal-dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal-dominant inherited corneal dystrophies with clinical resemblance. Methods: We describe the medical history and clinical findings in patients from a six-generation family with recurrent corneal erosions. A total of 28 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and analysed with polymorphic microsatellite markers close to known genes causing autosomal-dominant corneal dystrophies. Results: The patients had erosive symptoms that usually lasted from 1 to 7 days. The symptoms were described as... (More)
Purpose: The aim of this study was to characterize the phenotype in a large family with autosomal-dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal-dominant inherited corneal dystrophies with clinical resemblance. Methods: We describe the medical history and clinical findings in patients from a six-generation family with recurrent corneal erosions. A total of 28 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and analysed with polymorphic microsatellite markers close to known genes causing autosomal-dominant corneal dystrophies. Results: The patients had erosive symptoms that usually lasted from 1 to 7 days. The symptoms were described as early as at 8 months of age, and by the age of 5 the majority of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity with age, and 52% of the patients developed central keloid-like corneal opacities. Nine patients received corneal grafts, and recurrences were seen in all grafts. The affected patients did not share haplotypes for genetic microsatellite markers surrounding known genes causing autosomal-dominant corneal dystrophies. Conclusion: We describe a new hereditary disease with recurrent corneal erosions. Attacks of symptoms similar to recurrent erosions dominate the phenotype, but half of those affected also developed corneal, keloid-like, central opacities. This disorder was not genetically linked to any clinically resembling corneal dystrophies with autosomal-dominant inheritance. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
keloid, hereditary, cornea, corneal dystrophies, recurrent erosion
in
Acta Ophthalmologica
volume
86
issue
7
pages
758 - 763
publisher
Wiley-Blackwell
external identifiers
  • wos:000260527200011
  • scopus:55449085854
ISSN
1755-3768
DOI
10.1111/j.1600-0420.2007.01123.x
language
English
LU publication?
yes
id
5a32fc90-453d-4862-9880-32c3ca64790d (old id 1283729)
date added to LUP
2009-02-10 09:55:19
date last changed
2017-01-01 05:15:43
@article{5a32fc90-453d-4862-9880-32c3ca64790d,
  abstract     = {Purpose: The aim of this study was to characterize the phenotype in a large family with autosomal-dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal-dominant inherited corneal dystrophies with clinical resemblance. Methods: We describe the medical history and clinical findings in patients from a six-generation family with recurrent corneal erosions. A total of 28 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and analysed with polymorphic microsatellite markers close to known genes causing autosomal-dominant corneal dystrophies. Results: The patients had erosive symptoms that usually lasted from 1 to 7 days. The symptoms were described as early as at 8 months of age, and by the age of 5 the majority of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity with age, and 52% of the patients developed central keloid-like corneal opacities. Nine patients received corneal grafts, and recurrences were seen in all grafts. The affected patients did not share haplotypes for genetic microsatellite markers surrounding known genes causing autosomal-dominant corneal dystrophies. Conclusion: We describe a new hereditary disease with recurrent corneal erosions. Attacks of symptoms similar to recurrent erosions dominate the phenotype, but half of those affected also developed corneal, keloid-like, central opacities. This disorder was not genetically linked to any clinically resembling corneal dystrophies with autosomal-dominant inheritance.},
  author       = {Hammar, Björn and Bjorck, Erik and Lagerstedt, Kristina and Dellby, Anette and Fagerholm, Per},
  issn         = {1755-3768},
  keyword      = {keloid,hereditary,cornea,corneal dystrophies,recurrent erosion},
  language     = {eng},
  number       = {7},
  pages        = {758--763},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Ophthalmologica},
  title        = {A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance},
  url          = {http://dx.doi.org/10.1111/j.1600-0420.2007.01123.x},
  volume       = {86},
  year         = {2008},
}