title: Clinical phenotype of juvenile open-angle glaucoma linked to chromosome 1q in a Danish family.
abstract: OBJECTIVE
  To describe in a Danish family the phenotype of members with autosomal dominant juvenile open-angle glaucoma linked to chromosome 1q, GLCA1, and to assess possible biometric differences between the eyes of affected and unaffected subjects.
  
  
  METHODS
  Thirty-five subjects in a six generation family were examined. The records of five additional affected family members were available. Records from former examinations and treatments were also obtained. In 18 affected subjects and 13 unaffected subjects above 24 years biometric parameters were assessed and compared between the groups.
  
  
  RESULTS
  The age at diagnosis of glaucoma was on average 18 years (range 8 to 33 years). Bilateral intraocular pressure was high at the time of diagnosis (mean 37 mmHg, range 28-69 mmHg). All subjects except two needed filtering surgery shortly after diagnosis (mean 1 year, range 0-8 years). Gonioscopy displayed open chamber angle and goniodysgenesis in all affected subjects, but no dysgenesis in unaffected subjects. A comparison of biometric parameters of affected and unaffected subjects showed a deeper anterior chamber, but no other differences were found.
  
  
  CONCLUSIONS
  The phenotype of the affected family members is characterized by juvenile onset of glaucoma, open chamber angle with goniodysgenesis, high initial intraocular pressure, and the need for filtering surgery to control pressure. The deeper anterior chamber in affected subjects could indicate more extensive maldevelopment in affected subjects.
authors.affiliation: Department of Ophthalmology, Aalborg Sygehus, Denmark.
authors.forename: S F
authors.initials: SF
authors.lastname: Urbak
mesh_terms: D000293:Adolescent; D000328:Adult; D000867:Anterior Chamber / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002878:Chromosomes, Human, Pair 1; D003718:Denmark; D005260:Female; D018463:Filtering Surgery; D005799:Genes, Dominant; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D006068:Gonioscopy; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D010375:Pedigree; D010641:Phenotype