Journal article
Hereditary Hyperferritinemia-Cataract Syndrome: Prevalence, Lens Morphology, Spectrum of Mutations, and Clinical Presentations
JE Craig, JB Clark, JL McLeod, MA Kirkland, G Grant, JE Elder, MG Toohey, L Kowal, HF Savoia, C Chen, S Roberts, MG Wirth, DA Mackey
Archives of Ophthalmology | AMER MEDICAL ASSOC | Published : 2003
Abstract
Objectives: To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence. Methods: All known cases of HHCS in southeastern Australia were ascertained. Family members provided a medical history and underwent physical examination, lens photography, and venipuncture for measurement of serum ferritin levels and DNA extraction. Sequence analysis of the iron-responsive element of the ferritin light chain on chromosome 19q13.3-qter was performed. Results: We investigated 26 affected individuals from 5 Australian pedigrees. Two pedigrees ..
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