Lens changes in hereditary hyperferritinemia-cataract syndrome - 03/09/11
Inquiries to Anne Chang-Godinich, MD, 1960 Eye Surgeons, 11880 FM 1960 W, Houston, Texas 77065; fax: (281) 890-5733Abstract |
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 μg/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.
Le texte complet de cet article est disponible en PDF. | Supported in part by a grant from the Heed Ophthalmic Foundation, Cleveland, Ohio (A.C.-G.). |
Vol 132 - N° 5
P. 786-788 - novembre 2001 Retour au numéro
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