title: Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree.
abstract: OBJECTIVE
  To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members.
  
  
  METHODS
  Family members received a domiciliary examination based on corrected visual acuity, color vision, visual field defects, and optic disc appearance; DNA linkage analysis was performed using 7 microsatellite markers on 3q27-qter.
  
  
  RESULTS
  Based on the results of the ophthalmic examination, 15 members could be classified as definitely affected, 1 probably affected, and 25 unaffected. Two-point linkage analysis gave significant maximum lod scores at theta [corrected] = 0.00, with the markers D3S3669, D3S3590, and D3S3642. A haplotype segregating with the disease was identified in affected individuals, including the probably affected subject. Informative meioses defined the disease interval between markers D3S1601 and D3S1265.
  
  
  CONCLUSIONS
  Domiciliary screening was effective in identifying all 16 affected members of a British family with dominant optic atrophy. The typical clinical features were present. The location of the OPA1 gene in this new British family seems to be in the 3q27-28 region and is the same as that reported in Danish, Cuban, and French families, suggesting no genetic heterogeneity in this disorder.
authors.affiliation: Department of Ophthalmology, St Thomas's Hospital, London, England.
authors.forename: R L
authors.initials: RL
authors.lastname: Johnston
authors.forename: M A
authors.initials: MA
authors.lastname: Burdon
authors.forename: D J
authors.initials: DJ
authors.lastname: Spalton
authors.forename: S P
authors.initials: SP
authors.lastname: Bryant
authors.forename: J T
authors.initials: JT
authors.lastname: Behnam
authors.forename: M J
authors.initials: MJ
authors.lastname: Seller
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003118:Color Perception; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D006113:United Kingdom; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D004247:DNA