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

Research output: Contribution to journalArticle

Standard

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis. / Hammar, Björn; Bjorck, Erik; Lind, Helena; Lagerstedt, Kristina; Dellby, Anette; Fagerholm, Per.

In: Acta Ophthalmologica, Vol. 87, No. 6, 2009, p. 659-665.

Research output: Contribution to journalArticle

Harvard

APA

CBE

MLA

Vancouver

Author

Hammar, Björn ; Bjorck, Erik ; Lind, Helena ; Lagerstedt, Kristina ; Dellby, Anette ; Fagerholm, Per. / Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis. In: Acta Ophthalmologica. 2009 ; Vol. 87, No. 6. pp. 659-665.

RIS

TY - JOUR

T1 - Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

AU - Hammar, Björn

AU - Bjorck, Erik

AU - Lind, Helena

AU - Lagerstedt, Kristina

AU - Dellby, Anette

AU - Fagerholm, Per

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

KW - recurrent

KW - hereditary

KW - corneal opacities

KW - cornea

KW - corneal dystrophies

KW - erosion

U2 - 10.1111/j.1755-3768.2008.01308.x

DO - 10.1111/j.1755-3768.2008.01308.x

M3 - Article

VL - 87

SP - 659

EP - 665

JO - Acta Ophthalmologica

JF - Acta Ophthalmologica

SN - 1755-3768

IS - 6

ER -