Opinion: Ocular features aid the diagnosis of Alport syndrome

Nat Rev Nephrol. 2009 Jun;5(6):356-60. doi: 10.1038/nrneph.2009.65.


Alport syndrome is a common cause of inherited kidney failure but often goes unrecognized. Most affected families show an X-linked pattern of inheritance where affected males develop renal failure and hearing loss, and often lenticonus and retinopathy. Lenticonus is evident on both ophthalmoscopy and slit-lamp examination but retinal abnormalities are more obvious on imaging. Such abnormalities include a perimacular dot-and-fleck retinopathy and a peripheral fleck retinopathy, which might occur independently of each other; a 'dull macular reflex' or 'lozenge', when the perimacular flecks are confluent; and, rarely, a macular hole caused by retinal thinning. Imaging of the central and peripheral retina including 'red-free' views is a rapid, noninvasive and inexpensive test that might aid the diagnosis of Alport syndrome, particularly in male individuals with early-onset renal failure. The assistance of an interested ophthalmologist is invaluable in the diagnosis of Alport syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Lens Diseases / etiology*
  • Nephritis, Hereditary / complications*
  • Nephritis, Hereditary / diagnosis*
  • Retinal Diseases / etiology*