title: [Oguchi disease or stationary congenital night blindness: a case report].
abstract: BACKGROUND
  Oguchi disease, originally described in Japanese people, is a rare form of stationary night blindness in patients with normal acuity.
  
  
  METHODS
  We report the case of an 8-year-old girl who presented with an abnormal terrified behavior in the dark. Thorough questioning revealed hemeralopia. Her clinical examination (visual acuity, Goldmann visual field, and color vision) were normal. The fundus examination showed golden-brown color, grayish, almost greenish yellow discoloration in the peripheral area with no osteoclast. This abnormality disappeared after prolonged dark adaptation. The electroretinogram showed a reduced b wave amplitude under scotopic conditions. Her parents were cousins.
  
  
  CONCLUSIONS
  This diagnosis should be suggested when hemeralopia is associated with typical fundus aspect resolving after dark adaptation (so called Mizuo-Nakamura phenomenon). The long-term prognosis in these patients is good in the absence of clinical progression. This is a genetic autosomal recessive disease caused by mutations in the gene coding for arrestin located in 2q37.1.
authors.affiliation: Service d'Ophtalmologie, Centre Hospitalier Universitaire, Poitiers, France. m.boissonnot@chu-poitiers.fr
authors.forename: M
authors.initials: M
authors.lastname: Boissonnot
authors.forename: M F
authors.initials: MF
authors.lastname: Robert
authors.forename: B
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: P
authors.initials: P
authors.lastname: Dighiero
mesh_terms: D019393:Arrestin / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003116:Color; D003241:Consanguinity; D003623:Dark Adaptation / Q000502:physiology; D004325:Dreams; D004596:Electroretinography; D005239:Fear; D005260:Female; D005654:Fundus Oculi; D051606:G-Protein-Coupled Receptor Kinase 1 / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D009755:Night Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014786:Vision Disorders / Q000151:congenital*
chemical_list: D019393:Arrestin; D051606:G-Protein-Coupled Receptor Kinase 1