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A Japanese child with Senior-Loken syndrome
K Sekiya1, M Nakazawa, H Tanaka
1Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki-shi, Aomori-ken, Japan.
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.
Case:
A 6-year-old Japanese girl had anemia, mental retardation, and poor vision.
Observations:
Fundus examination and electroretinography revealed that the patient had retinitis pigmentosa. A subsequent percutaneous renal biopsy disclosed chronic tubulointerstitial nephritis.
Conclusion:
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.