title: RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
abstract: To investigate genetic and clinical features of patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations.
  
  
  
  Five Japanese families with LCA were recruited. We performed complete ophthalmic examinations, with optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG). Genetic analysis was performed with whole-exome sequencing analysis and Sanger sequencing.
  
  
  
  We identified RPE65 mutations in two unrelated LCA patients from two families. Case 1: A 5-month-old girl was diagnosed with LCA because of nystagmus, loss of vision and non-recordable ERG. She was the only one affected in her non-consanguineous family, and exhibited novel compound heterozygous RPE65 mutations (c.177C>G, p.H59Q and c.183_184insT, p.D62X). Case 2: A 30-year-old woman, who had night blindness and poor ocular pursuit during the first year of life, exhibited severe retinal degeneration and non-recordable ERG. She was the only affected in her non-consanguineous family, and showed a homozygous RPE65 mutation (c.1543C>T, p.R515W).
  
  
  
  By using whole-exome sequencing analysis, three RPE65 mutations were identified in two Japanese patients with LCA. This approach would be useful for identification of disease-causing mutations of LCA.
authors.affiliation: a Division of Molecular and Cellular Biology , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan .|b Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan .
authors.forename: Satoshi
authors.initials: S
authors.lastname: Katagiri
authors.affiliation: b Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan .
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.affiliation: c Department of Ophthalmology , Mie University Graduate School of Medicine , Tsu , Japan .|d Department of Ophthalmology , Aichi Children's Health and Medical Center , Obu , Japan , and.
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.affiliation: c Department of Ophthalmology , Mie University Graduate School of Medicine , Tsu , Japan .
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Tsukitome
authors.affiliation: e Laboratory of DNA Data Analysis , National Institute of Genetics , Shizuoka , Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Yoshitake
authors.affiliation: a Division of Molecular and Cellular Biology , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan .
authors.forename: Masakazu
authors.initials: M
authors.lastname: Akahori
authors.affiliation: e Laboratory of DNA Data Analysis , National Institute of Genetics , Shizuoka , Japan.
authors.forename: Kazuho
authors.initials: K
authors.lastname: Ikeo
authors.affiliation: b Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan .
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
authors.affiliation: a Division of Molecular and Cellular Biology , National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center , Tokyo , Japan .
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D057130:Leber Congenital Amaurosis / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D061848:Optical Imaging; D010375:Pedigree; D017422:Sequence Analysis, DNA; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D019745:cis-trans-Isomerases / Q000235:genetics*; D000099178:Retinoid Isomerohydrolase
chemical_list: D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
keywords: Japanese; Leber congenital amaurosis; RPE65; mutations; whole-exome sequencing