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The retinal 'lozenge' or 'dull macular reflex' in Alport syndrome is associated with a severe retinopathy and early onset renal failure
  1. Deb Colville (colville{at}unimelb.edu.au),
  2. Yan Yan Wang (yywang{at}unimelb.edu.au),
  3. Rachel Tan (rchltan{at}gmail.com),
  4. Judy Savige (jasavige{at}unimelb.edu.au)
  1. The University of Melbourne Department of Medicine (Northern Health), Australia
  2. The University of Melbourne Department of Medicine (Northern Health), Australia
  3. The University of Melbourne Department of Medicine (Northern Health), Australia
  4. The University of Melbourne Department of Medicine (Northern Health), Australia

    Abstract

    Background and Aims: Alport syndrome is an inherited disease with renal failure, and often a hearing loss, lenticonus and dot and fleck retinopathy. A retinal ‘lozenge’ or ‘dull macular reflex’ has been described in some patients. This study determined the prevalence and significance of this sign.

    Methods: Twenty-three patients from 14 families with X-linked Alport syndrome, and 7 from 4 families with autosomal recessive disease underwent slit lamp biomicroscopy for lenticonus, and direct and indirect ophthalmoscopy, and photography for the retinopathy.

    Results: The lozenge was present in 5 males (38%) but no females with X-linked Alport syndrome, and one individual with recessive disease (1/7, 14%). It resulted from the sharp demarcation between the normal fovea and a perifoveal annnulus of confluent dots and flecks that were obvious with magnification of retinal photographs. The lozenge was first noted in adolescence, and was always associated with early-onset renal failure, hearing loss and lenticonus.

    Conclusion: Clinicians must be aware the ‘lozenge’ or ‘dull macular reflex’ described in Alport syndrome is not a normal variant but reflects a severe almost confluent perimacular dot and fleck retinopathy. This sign is useful diagnostically and also prognostically since it is associated with early onset renal failure.

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