2011
DOI: 10.1097/ico.0b013e31821142b5
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Heavy-Chain Amyloidosis in TGFBI-Negative and Gelsolin-Negative Atypical Lattice Corneal Dystrophy

Abstract: Atypical midperipheral lattice corneal dystrophy presenting with adult onset and negative family history should arouse suspicion for an association with paraproteinemias or amyloidosis. Exclusion of TGFBI mutations should alert the clinician to the possibility of potentially life-threatening conditions, with referral for careful systemic evaluation.

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Cited by 12 publications
(19 citation statements)
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“…Among these, AL amyloidosis is caused by the deposition of light‐chain fragment‐derived amyloid fibrils, and AH amyloidosis is caused by the deposition of heavy‐chain fragment‐derived amyloid. Systemic AL amyloidosis is the most common type of systemic amyloidosis and accounts for approximately two‐thirds of all systemic amyloidosis cases, whereas systemic AH amyloidosis is a rare disease and only 17 cases have been reported . Both types of Ig‐related amyloidosis frequently affect the kidney.…”
Section: Introductionmentioning
confidence: 99%
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“…Among these, AL amyloidosis is caused by the deposition of light‐chain fragment‐derived amyloid fibrils, and AH amyloidosis is caused by the deposition of heavy‐chain fragment‐derived amyloid. Systemic AL amyloidosis is the most common type of systemic amyloidosis and accounts for approximately two‐thirds of all systemic amyloidosis cases, whereas systemic AH amyloidosis is a rare disease and only 17 cases have been reported . Both types of Ig‐related amyloidosis frequently affect the kidney.…”
Section: Introductionmentioning
confidence: 99%
“…Moreover, immunohistochemical detection of AH amyloid deposition is also difficult because AH amyloid protein often lacks the Fc portion, which is recognised by most antibodies reacting with Ig heavy chains . Therefore, biochemical analyses, such as amino acid sequence analysis of extracted amyloid proteins, laser micro‐dissection and mass spectrometry (LMD/MS), and liquid chromatography‐tandem mass spectrometry (LC‐MS/MS), are frequently required for the definite diagnosis of AH amyloidosis . However, these analyses are not widely available.…”
Section: Introductionmentioning
confidence: 99%
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“…The molecular investigation of a diverse spectrum of corneal phenotypes investigated in large and small population cohorts alike has shown the ability to identify outliers, that is, those with features, or even slightly atypical features of a given genotype or syndrome/dystrophy, yet (i) either do not carry mutations within the known gene, opening the door for identification of alternative molecular mechanisms, or (ii) the corneal phenotype may actually be a manifestation of a systemic disorder. An atypical lattice dystrophy observed prior to a diagnosis of a heavy chain amyloidosis is an example . A 61‐year‐old male with no family history ocular history presented with contact lens intolerance and noted to have a bilateral, atypical, fine, midperipheral lattice corneal dystrophy with minor central subepithelial scarring.…”
Section: Ic3d Classificationmentioning
confidence: 99%