Senior-Loken syndrome: A case report

Senior-Loken syndrome refers to a combination of nephronophthisis and retinal dystrophy. Nephronophthisis progresses to end-stage renal disease during the second decade. The retinal lesions vary from severe infantile onset retinal dystrophy to milder pigmentary retinopathy. There is a spectrum of associated features, including skeletal, dermatological, and cerebellar anomalies. Here, we report a case of first genetically proven Senior-Loken syndrome in India, who presented with growth failure, polyuria, polydipsia, nystagmus, and defective night vision.