title: A Japanese child with Senior-Loken syndrome.
abstract: BACKGROUND
  Senior-Loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. We describe the clinical features of a Japanese patient with Senior-Loken syndrome emphasizing the importance of the ophthalmic findings in determining a correct diagnosis.
  
  
  METHODS
  A 6-year-old Japanese girl had anemia, mental retardation, and poor vision.
  
  
  METHODS
  Fundus examination and electroretinography revealed that the patient had retinitis pigmentosa. A subsequent percutaneous renal biopsy disclosed chronic tubulointerstitial nephritis.
  
  
  CONCLUSIONS
  The ophthalmic findings in our patient led to the diagnosis of Senior-Loken syndrome. A careful ophthalmic examination was helpful in correctly diagnosing the syndrome.
authors.affiliation: Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki-shi, Aomori-ken, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sekiya
authors.forename: M
authors.initials: M
authors.lastname: Nakazawa
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
mesh_terms: D001706:Biopsy; D002648:Child; D002908:Chronic Disease; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D009395:Nephritis, Interstitial / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D013577:Syndrome