title: Hereditary high hypermetropia in the Faroe Islands.
abstract: OBJECTIVE
  To characterize the phenotype of two families with high hypermetropia from the Faroe Islands.
  
  
  METHODS
  Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements.
  
  
  RESULTS
  Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) had small deep-set eyes with high hypermetropia (median: + 16.5 D; range: + 7.75 to + 22), short axial eye length (< 21 mm), and a thickened eye wall. The median corrected visual acuity was 0.4 (0.2-0.9). Ocular complications included angle-closure glaucoma in six eyes, uveal effusion in three eyes, cataract in two eyes, and esotropia with amblyopia in three eyes. An emergency case of uveal effusion and retinal detachment after Yag iridotomy eventually responded to systemic corticosteroids and scleral resection surgery with a slow visual recovery. No associated ocular or systemic malformations were found in the series. In addition to the two examined families, six smaller Faroese families with high hypermetropia are briefly reported.
  
  
  CONCLUSIONS
  The study highlights the signs and symptoms of a rare hereditary phenotype characterized by a short axial length mainly confined to the posterior segment of the eye, a shallow anterior chamber, and a thickened eye wall. The morphological characteristics predispose for sight-threatening complications such as angle-closure glaucoma, chorioretinal pathology including uveal effusion, and amblyopia. Regular ophthalmic follow-up is therefore of obvious importance in families known to have small eyes/high hypermetropia. An endemic high prevalence in the Faroe Islands suggests the presence of a founder effect, and further genetic research would probably indicate pseudodominant rather than dominant transmission
authors.affiliation: Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark. Fuchs@dadlnet.dk
authors.forename: Josefine
authors.initials: J
authors.lastname: Fuchs
authors.forename: Kári
authors.initials: K
authors.lastname: Holm
authors.forename: Kaj
authors.initials: K
authors.lastname: Vilhelmsen
authors.forename: Thomas
authors.initials: T
authors.lastname: Rosenberg
authors.forename: Erik
authors.initials: E
authors.lastname: Scherfig
authors.forename: Hans C
authors.initials: HC
authors.lastname: Fledelius
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000550:Amblyopia / Q000235:genetics / Q000473:pathology; D001266:Atlantic Islands; D002386:Cataract / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D015812:Glaucoma, Angle-Closure / Q000235:genetics / Q000473:pathology; D006801:Humans; D006956:Hyperopia / Q000235:genetics*; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D014792:Visual Acuity