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. 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.