title: Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.
abstract: OBJECTIVE
  To assess the clinical and genetic characteristics of 2 Japanese families with autosomal dominant macular degeneration (ADMD) associated with a 208delG mutation in the retinal fascin (FSCN2) gene.
  
  
  METHODS
  Case reports with clinical findings and results of fluorescein angiography, electroretinography, kinetic visual field testing, and DNA analysis.
  
  
  METHODS
  University medical center.
  
  
  RESULTS
  The 208delG mutation in the FSCN2 gene was identified in 14 members of 4 Japanese families with autosomal dominant retinitis pigmentosa and in 5 members of 2 Japanese families with ADMD. The characteristic features associated with this mutation led to 2 different phenotypes, autosomal dominant retinitis pigmentosa and ADMD.
  
  
  CONCLUSIONS
  The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD in the Japanese population. This mutation is relatively common in Japanese patients with autosomal dominant retinal degeneration and showed clinical variability.
  
  
  CONCLUSIONS
  Autosomal dominant retinitis pigmentosa and ADMD can be caused by the same 208delG mutation. We suggest that mutations in the FSCN2 gene can lead to a spectrum of phenotypes.
authors: Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. YUKOW@oph.med.tohoku.ac.jp
authors: Yuko
authors: Y
authors: Wada
authors: Toshiaki
authors: T
authors: Abe
authors: Toshitaka
authors: T
authors: Itabashi
authors: Hajime
authors: H
authors: Sato
authors: Miyuki
authors: M
authors: Kawamura
authors: Makoto
authors: M
authors: Tamai
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D017353:Gene Deletion; D005799:Genes, Dominant; D006147:Guanine; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014794:Visual Fields
chemical_list: D002352:Carrier Proteins; D008840:Microfilament Proteins; C020324:fascin; D006147:Guanine