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.