REFERENCES
- Girelli D, Corrocher R, Bisceglia L. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”). Blood 1995; 86: 4050–4053
- Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G, Cazzola M. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995; 90: 931–934
- Craig J E, Clark J B, McLeod J L. Hereditary hyperferritinemia-cataract syndrome: Prevalence, lens morphology, spectrum of mutations, and clinical presentations. Arch Ophthalmol 2003; 121: 1753–1761
- Arosio C, Fossati L, Vigano M, Trombini P, Cazzaniga G, Piperno A. Hereditary hyperferritinemia cataract syndrome: A de novo mutation in the iron responsive element of the L-ferritin gene. Haematologica 1999; 84: 560–561
- Bertola F, Veneri D, Bosio S, Battaglia P, Disperati A, Schiavon R. Hyperferritinaemia without iron overload: Pathogenic and therapeutic implications. Curr Drug Targets Immune Endocr Metabol Disord 2004; 4: 93–105
- McLeod J L, Craig J, Gumley S, Roberts S, Kirkland M A. Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. Br J Haematol 2002; 118: 1179–1182
- Papanikolaou G, Chandrinou H, Bouzas E, et al. Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39→G mutation of L-ferritin IRE. Blood Cells Mol Dis 2006; 36: 33–40
- Cazzola M, Skoda R C. Translational pathophysiology: A novel molecular mechanism of human disease. Blood 2000; 95: 3280–3288
- Girelli D, Olivieri O, Gasparini P, Corrocher R. Molecular basis for the hereditary hyperferritinemia-cataract syndrome. Blood 1996; 87: 4912–4913
- Mumford A D, Vulliamy T, Lindsay J, Watson A. Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element. Blood 1998; 91: 367–368
- Brooks D G, Manova-Todorova K, Farmer J, et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci 2002; 43: 1121–1126
- Girelli D, Bozzini C, Zecchina G, et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. Br J Haematol 2001; 115: 334–340
- Goralska M, Nagar S, Fleisher L N, McGahan M C. Differential degradation of ferritin H- and L-chains: Accumulation of L-chain-rich ferritin in lens epithelial cells. Invest Ophthalmol Vis Sci 2005; 46: 3521–3529
- Mumford A D, Cree I A, Arnold J D, Hagan M C, Rixon K C, Harding J J. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. Br J Ophthalmol 2000; 84: 697–700
- Cazzola M, Bergamaschi G, Tonon L, et al. Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood 1997; 90: 814–821
- Lee M H, Means R T, Jr. Extremely elevated serum ferritin levels in a university hospital: Associated diseases and clinical significance. Am J Med 1995; 98: 566–571
- Ganz T. Molecular pathogenesis of anemia of chronic disease. Pediatr Blood Cancer 2006; 46: 554–557
- Christiansen G, Mohney B G. Hereditary hyperferritinemia-cataract syndrome. J Aapos 2007; 11: 294–296