title: Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity.
authors.affiliation: Department of Ophthalmology, Faculty of Health Sciences, University Hospital, Linköping, Sweden. bjorn.hammar@skane.se
authors.forename: Björn
authors.initials: B
authors.lastname: Hammar
authors.forename: Erik
authors.initials: E
authors.lastname: Björck
authors.forename: Helena
authors.initials: H
authors.lastname: Lind
authors.forename: Kristina
authors.initials: K
authors.lastname: Lagerstedt
authors.forename: Anette
authors.initials: A
authors.lastname: Dellby
authors.forename: Per
authors.initials: P
authors.lastname: Fagerholm
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000145:classification* / Q000473:pathology* / Q000503:physiopathology / Q000628:therapy; D019573:Epithelium, Corneal / Q000473:pathology*; D005260:Female; D005355:Fibrosis; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D008297:Male; D008499:Medical Records; D008875:Middle Aged; D008967:Molecular Biology / Q000379:methods; D010375:Pedigree; D010641:Phenotype; D012008:Recurrence; D014792:Visual Acuity; D055815:Young Adult