title: Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.
abstract: OBJECTIVE
  To describe the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa, the locus of which has been mapped on chromosome 19q.
  
  
  METHODS
  Ophthalmologic testing, including visual acuity, slit-lamp biomicroscopy, and fundus examinations, for all family members examined. Selected members underwent kinetic visual field testing, electroretinography, and fluorescein angiography.
  
  
  METHODS
  Eleven symptomatic members, two asymptomatic obligate carriers, and nine nonaffected members in four generations of a single family with autosomal dominant retinitis pigmentosa.
  
  
  RESULTS
  Asymptomatic carriers showed mildly affected fundus and fluorescein angiographic images. Visual field testing disclosed restricted central and midperipheral fields. Electroretinograms disclosed reduced amplitudes of rod-isolated responses in both of these family members, indicating functional abnormalities.
  
  
  CONCLUSIONS
  Marked variability in expressivity of the retinitis pigmentosa phenotype was found in a family with autosomal dominant retinitis pigmentosa linked to chromosome 19q.
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nakazawa
authors.forename: S
authors.initials: S
authors.lastname: Xu
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: M
authors.initials: M
authors.lastname: Tamai
mesh_terms: D000368:Aged; D002888:Chromosomes, Human, Pair 19; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D008040:Genetic Linkage; D014644:Genetic Variation / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012160:Retina / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics; D014794:Visual Fields
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D004247:DNA; D012243:Rhodopsin