| Heavy-Chain Amyloidosis in TGFBI-Negative and Gelsolin-Negative Atypical Lattice Corneal Dystrophy. | |
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MedLine Citation:
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PMID: 21743312 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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PURPOSE:: An atypical case of late-onset lattice corneal dystrophy is described in a 61-year-old man without a family history of eye disease. Mutational analysis of the TGFBI gene excluded any pathogenic sequence variants. However, 2 years later, renal impairment and nephrotic syndrome were diagnosed, resulting in a diagnosis of systemic heavy-chain amyloidosis. METHODS:: Slit-lamp examination, corneal photography, and in vivo confocal microscopy were performed. General systemic evaluation included blood and urine assessment, bone marrow and renal biopsies, and cardiologic evaluation. A DNA sample underwent initial mutational analysis of TGFBI and, subsequently, gelsolin. The renal biopsy sample was subject to direct protein sequencing by mass spectrometry. RESULTS:: A bilateral, atypical, fine, midperipheral lattice corneal dystrophy with minor central subepithelial scarring was clinically characterized. Subsequently, abnormal renal functions with proteinuria, IgG lambda paraproteinemia, extensive deposition of amyloid in renal glomeruli, and increased plasma cells in bone marrow were identified. No pathogenic sequence mutations were identified in TGFBI or the gelsolin genes. Direct protein sequencing by mass spectrometry showed amyloid to be heavy-chain deposition rather than the more usual light-chain deposition. CONCLUSIONS:: 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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Authors:
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Monika A Pradhan; Ross A Henderson; Dipika Patel; Charles N J McGhee; Andrea L Vincent |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-06 |
Journal Detail:
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Title: Cornea Volume: - ISSN: 1536-4798 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-7-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8216186 Medline TA: Cornea Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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From the *Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, New Zealand; †Eye Department, Greenlane Clinical Centre, Auckland District Health Board, New Zealand; and ‡Department of Hematology, North Shore Hospital, Waitemata District Health Board, New Zealand. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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