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

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A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. / Hammar, Björn; Bjorck, Erik; Lagerstedt, Kristina; Dellby, Anette; Fagerholm, Per.

In: Acta Ophthalmologica, Vol. 86, No. 7, 2008, p. 758-763.

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Hammar, Björn ; Bjorck, Erik ; Lagerstedt, Kristina ; Dellby, Anette ; Fagerholm, Per. / A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. In: Acta Ophthalmologica. 2008 ; Vol. 86, No. 7. pp. 758-763.

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TY - JOUR

T1 - A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

AU - Hammar, Björn

AU - Bjorck, Erik

AU - Lagerstedt, Kristina

AU - Dellby, Anette

AU - Fagerholm, Per

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

KW - keloid

KW - hereditary

KW - cornea

KW - corneal dystrophies

KW - recurrent erosion

U2 - 10.1111/j.1600-0420.2007.01123.x

DO - 10.1111/j.1600-0420.2007.01123.x

M3 - Article

C2 - 18778339

VL - 86

SP - 758

EP - 763

JO - Acta Ophthalmologica

JF - Acta Ophthalmologica

SN - 1755-3768

IS - 7

ER -