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• W2070980358 abstract "<h3>Background and aims:</h3> 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. <h3>Methods:</h3> Twenty-three patients from 14 families with X linked Alport syndrome and seven from four families with autosomal recessive disease underwent slit-lamp biomicroscopy for lenticonus, direct and indirect ophthalmoscopy, and photography for the retinopathy. <h3>Results:</h3> The lozenge was present in five males (38%) but no females with X linked Alport syndrome, as well as 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. <h3>Conclusion:</h3> Clinicians must be aware that 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." @default.
• W2070980358 created "2016-06-24" @default.
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• W2070980358 date "2008-11-19" @default.
• W2070980358 modified "2023-09-26" @default.
• W2070980358 title "The retinal lozenge or dull macular reflex in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure" @default.
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• W2070980358 doi "https://doi.org/10.1136/bjo.2008.142869" @default.
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