Hereditary hyperferritinemia-cataract syndrome

Gregory Christiansen; Brian G. Mohney

doi:10.1016/j.jaapos.2007.01.126

Hereditary hyperferritinemia-cataract syndrome

Gregory Christiansen, Brian G. Mohney

Ophthalmology

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a recently recognized syndrome characterized by dominantly inherited, early-onset cataracts and elevated serum ferritin. The opacities are caused by elevated ferritin protein within the crystalline lens and usually become symptomatic in the second to fourth decade of life. Routine laboratory tests can establish this diagnosis. We report two unrelated cases that presented in the United States.

Original language	English (US)
Pages (from-to)	294-296
Number of pages	3
Journal	Journal of AAPOS
Volume	11
Issue number	3
DOIs	https://doi.org/10.1016/j.jaapos.2007.01.126
State	Published - Jun 2007

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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10.1016/j.jaapos.2007.01.126

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abstract = "Hereditary hyperferritinemia-cataract syndrome (HHCS) is a recently recognized syndrome characterized by dominantly inherited, early-onset cataracts and elevated serum ferritin. The opacities are caused by elevated ferritin protein within the crystalline lens and usually become symptomatic in the second to fourth decade of life. Routine laboratory tests can establish this diagnosis. We report two unrelated cases that presented in the United States.",

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AB - Hereditary hyperferritinemia-cataract syndrome (HHCS) is a recently recognized syndrome characterized by dominantly inherited, early-onset cataracts and elevated serum ferritin. The opacities are caused by elevated ferritin protein within the crystalline lens and usually become symptomatic in the second to fourth decade of life. Routine laboratory tests can establish this diagnosis. We report two unrelated cases that presented in the United States.

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Hereditary hyperferritinemia-cataract syndrome

Abstract

ASJC Scopus subject areas

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