A Japanese child with Senior-Loken syndrome.
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.
Sekiya
K
K
Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki-shi, Aomori-ken, Japan.
Nakazawa
M
M
Tanaka
H
H
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