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Am J Ophthalmol. 2001 Nov;132(5):786-8.

Lens changes in hereditary hyperferritinemia-cataract syndrome.

Author information

1
Baylor College of Medicine, Cullen Eye Institute, Houston, Texas, USA.

Abstract

PURPOSE:

To provide detailed description and illustration of the lens changes found in hereditary hyperferritinemia-cataract syndrome, a newly reported autosomal dominant condition.

METHODS:

Observational case reports. A 19-year-old man was referred for evaluation of possible hereditary hyperferritinemia-cataract syndrome. His serum ferritin level was increased at 1291 microg/L during a routine screening examination. Genetic analysis revealed mutation G51C on chromosome 19, predicting an altered iron response element in L-ferritin mRNA. Subsequent evaluation of his 46-year-old father revealed similar findings.

RESULTS:

Multiple breadcrumb-like nuclear and cortical lens opacities were seen in this father-son pair. These cases represent the first detailed description and illustration of hereditary hyperferritinemia-cataract syndrome cataracts in the ophthalmic literature.

CONCLUSION:

Hereditary hyperferritinemia-cataract syndrome can be associated with distinct breadcrumb-like lens opacities. Recognition of these characteristic cataracts may aid identification and study of patients with this unusual disorder and provide insight into mechanisms of cataract formation.

PMID:
11704046
DOI:
10.1016/s0002-9394(01)01106-0
[Indexed for MEDLINE]

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