title: Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
abstract: OBJECTIVE
  To report a novel mutation in the RLBP1 gene and optical coherence tomographic findings in a Japanese patient with retinitis punctata albescens.
  
  
  METHODS
  Observational case report.
  
  
  METHODS
  The RLBP1 gene was analyzed by direct genomic sequencing. A complete ophthalmologic examination was performed.
  
  
  RESULTS
  Compound heterozygous mutations in the RLBP1 gene were identified in the patient. The mutations were a novel missense Arg103Trp mutation and a missense Arg234Trp mutation, the causative mutation of Bothnia dystrophy. The patient's fundi showed numerous white dots with diffuse retinal mottling and bilateral macular degeneration. Her visual function deteriorated progressively during 12-year follow-up. Optical coherence tomography demonstrated decreased retinal thickness, especially the photoreceptor layer.
  
  
  CONCLUSIONS
  A novel mutation in RLBP1 gene was found in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography.
authors.affiliation: Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsuruma-cho, Showa-ku, Nagoya 466-8550, Japan. makonaka@med.nagoya-u.ac.jp
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Jian
authors.initials: J
authors.lastname: Lin
authors.forename: Yasuki
authors.initials: Y
authors.lastname: Ito
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D004585:Electrooculography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D020125:Mutation, Missense; D009755:Night Blindness / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D012160:Retina / Q000473:pathology; D012172:Retinaldehyde / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D012172:Retinaldehyde