Hereditary hyperferritinemia-cataract syndrome.
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.
Christiansen
Gregory
G
Medical Eye Center, Medford, Oregon, USA.
Mohney
Brian G
BG
D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis / Q000235:genetics*; D007908:Lens, Crystalline / Q000378:metabolism / Q000473:pathology; D008297:Male; D013577:Syndrome
D005293:Ferritins