K Sekiya1, M Nakazawa, H Tanaka. 1. Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki-shi, Aomori-ken, Japan.
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.
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.