The retinal "lozenge" or "dull macular reflex" in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure.
OBJECTIVE
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 seven from four families with autosomal recessive disease underwent slit-lamp biomicroscopy for lenticonus, direct and indirect ophthalmoscopy, and photography for the retinopathy.


RESULTS
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.


CONCLUSIONS
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.
Colville
D
D
The University of Melbourne, Department of Medicine (Northern Health), The Northern Hospital, Epping VIC 3076, Australia.
Wang
Y Y
YY
Tan
R
R
Savige
J
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D024141:Collagen Type IV / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009887:Ophthalmoscopy / Q000379:methods; D010781:Photography; D051437:Renal Insufficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D015593:Retinal Drusen / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D042262:Retinoscopy
C478159:COL4A5 protein, human; D024141:Collagen Type IV