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- Hereditary Hyperferritinemia-Cataract Syndrome: Prevalence, Lens . . .
Hereditary hyperferritinemia-cataract syndrome is the first genetic disorder known to result from regulatory mutations affecting translation As such, it presents a novel mechanism of cataract formation
- Hereditary hyperferritinemia-cataract syndrome: prevalence, lens . . .
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
- Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and . . .
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload
- Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE . . .
We herein report the case of a 40-year-old woman with spontaneous facial freckling, bilateral cataracts, homozygosity for HFE H63D mutation, iron deficiency anemia, and hyperferritinemia, who has been treated with phlebotomy and iron chelation therapy to no avail
- A rare case report of hereditary hyperferritinemia cataract syndrome
The global prevalence of the disease has not been clearly defined, and it has been estimated to be 1 in 200,000 cases [1] This number may underestimate the actual prevalence because many clinicians remain unaware of this condition due to its rarity
- Hereditary Hyperferritinemia-Cataract Syndrome
Objectives: To provide a comprehensive description of the clinical presentations, cataract morphology, and mo-lecular basis of hereditary hyperferritinemia-cataract syn-drome (HHCS) in 4 Australian pedigrees and to esti-mate its prevalence
- Hereditary Hyperferritinemia‐Cataract Syndrome in 3 Generations of a . . .
The prevalence of this disease is considered to be rare, but what was once thought to be a disease located in one or two European countries has now been diagnosed in several areas of the United States and other parts of the world It is probably better characterized as unrecognized
- Hyperferritinemia-Cataract Syndrome | Hereditary Ocular Diseases
Cataracts may also be present among other disorders of iron metabolism For example, mutations in the gene HFE (6p21 3) that is responsible for a form of hemachromotosis (235200), can also be associated with lens opacities consisting of both general nuclear sclerosis and discrete opacities
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