The retinal "lozenge" or "dull macular reflex" in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure.

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 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.

CONCLUSION:

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.

• Authors: D Colville, Y Y Wang, R Tan, J Savige
• Journal: The British journal of ophthalmology (Br J Ophthalmol) Vol. 93 Issue 3 Pg. 383-6 (Mar 2009) ISSN: 1468-2079 [Electronic] England
• PMID: 19019929 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• COL4A5 protein, human
• Collagen Type IV

Topics

• Adolescent
• Adult
• Aged
• Child
• Collagen Type IV (genetics)
• DNA Mutational Analysis
• Female
• Genes, Recessive
• Humans
• Male
• Middle Aged
• Nephritis, Hereditary (complications, diagnosis, genetics)
• Ophthalmoscopy (methods)
• Photography
• Renal Insufficiency (complications, diagnosis, genetics)
• Retina (pathology)
• Retinal Diseases (complications, diagnosis, genetics)
• Retinal Drusen (complications, diagnosis, genetics)
• Retinoscopy