Ocular features aid the diagnosis of Alport syndrome

Alport syndrome is the most common inherited cause of renal failure after nephronophthisis and reflux nephropathy in children, and after polycystic kidney disease in adults, but often goes unrecognized. In this article, Savige and Colville describe the ocular features of Alport syndrome, and suggest that imaging of the central and peripheral retina might be a rapid, noninvasive and inexpensive test to aid diagnosis of Alport syndrome, particularly in males with early-onset renal failure.