BACKGROUND: Alport syndrome refers to the clinical triad of hereditary 
nephritis, sensorineural deafness, and ocular abnormalities. Ultrastructural 
findings in the lens capsule and in the renal glomeruli have provided evidence 
that abnormal basement membranes are elaborated in affected tissues of patients 
with this disorder. Recently, the results of several linkage studies have 
allowed the genetic defect in Alport syndrome to be mapped to a locus that codes 
for a subtype of type IV collagen (alpha 5) known to be present in glomerular 
basement membranes. In spite of these advances, the nature of the retinal flecks 
in Alport syndrome and the visual consequences of the flecks remain 
controversial.
METHODS: Detailed psychophysical and electrophysiologic testing was performed in 
a young man with Alport syndrome. The concurrence of an unusually extensive 
fleck retinopathy and unilateral pseudophakia afforded a unique opportunity to 
assess the effect of the flecks on retinal function.
RESULTS: No sensory deficits were present in the eye with clear media.
CONCLUSION: Macular flecks in Alport syndrome are not associated with 
demonstrable retinal dysfunction. The authors address questions about the nature 
and pathogenesis of the flecks in light of new clinical and genetic information.