Senior– Loken Syndrome – A Ciliopathy
MD04-MD05
Correspondence
Dr. Hemachandar R,
Assistant Professor, Department of Nephrology,
Mahatma Gandhi Medical College and Research Institute, Puducherry – 607402, India.
Phone : +91-76675 19804, E-mail : hemachandarr@gmail.com
Senior – Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto – retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis. The first patient had early onset progressive retinal degeneration leading to childhood blindness whereas the second patient had asymptomatic retinitis pigmentosa. These cases are presented to highlight the spectrum of eye manifestations of Senior – Loken syndrome. This report also stresses the need for fundus evaluation in patients with chronic kidney disease presenting in second decade of life even if asymptomatic.