Alport's Syndrome: A Diagnosis Made Easier to Swallow by the Retinal Lozenge

Alport Syndrome is a genetically and clinically heterogeneous disorder characterized by progressive renal failure, sensorineural hearing loss, and ocular abnormalities. These clinical findings have been recently attributed to a disorder of basement membrane type IV collagen (ref 1). Many affected individuals are unrecognized, because the clinical features are atypical, renal biopsy is unhelpful, and genetic testing not readily available (ref 2). The ocular manifestations can be diagnostic.