Open AccessSenior-Loken syndrome: A case report
Author(s) -
Ashwath Duraiswamy,
C O Babilu
Publication year - 2020
Publication title -
karnataka paediatric journal
Language(s) - English
Resource type - Journals
ISSN - 0975-5152
DOI - 10.25259/kpj_12_2020
Subject(s) - nephronophthisis , medicine , polyuria , ciliopathy , retinitis pigmentosa , nystagmus , pediatrics , ophthalmology , retinal , diabetes mellitus , audiology , endocrinology , biology , biochemistry , gene , phenotype
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.