Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies |
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| Authors: | R. Lakshminarayanan Shyam S. Chaurasia Venkatraman Anandalakshmi Shu-Ming Chai Elavazhagan Murugan Eranga N. Vithana Roger W. Beuerman Jodhbir S. Mehta |
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| Affiliation: | 1. Institut National de la Santé et de la Recherche Médicale (INSERM) UMRS 940, University Paris 7—Denis Diderot, AP-HP, Saint Louis Hospital, Paris, France;2. INSERM UMR 1043 and CNRS UMR 5282, University Toulouse III Paul Sabatier, Toulouse, France;3. Pharmacology–Genetics Laboratory, University Paris 7—Denis Diderot, AP-HP, Saint Louis Hospital, Paris, France;4. Dermatology Department, University Paris 7—Denis Diderot, AP-HP, Saint Louis Hospital, Paris, France;5. Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 976, University Paris 7—Denis Diderot, AP-HP, Saint Louis Hospital, Paris, France;6. Jean Dausset Laboratory, University Paris 7—Denis Diderot, AP-HP, Saint Louis Hospital, Paris, France;7. Centre de Recherche du CHU de Québec, Université Laval, Québec, Canada;1. Women''s Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA;2. Division of Hematology/Oncology and Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA;1. Center for Insoluble Protein Structures (inSPIN), Interdisciplinary Nanoscience Center (iNANO) and Department of Chemistry, Aarhus University, Gustav Wieds Vej 14, DK-8000 Aarhus C, Denmark;2. Department of Biomedicine, University of Bergen, Jonas Lies vei 91, NO-5009 Bergen, Norway;3. Center for Insoluble Protein Structures (inSPIN), Interdisciplinary Nanoscience Center (iNANO) and Department of Chemistry, Aarhus University, Langelandsgade 140, DK-8000 Aarhus C, Denmark;4. Center for Insoluble Protein Structures (inSPIN), Interdisciplinary Nanoscience Center (iNANO) and Department of Molecular Biology and Genetics, Aarhus University, Gustav Wieds Vej 10, DK-8000 Aarhus C, Denmark |
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| Abstract: | ![]()
Corneal dystrophies are a group of inherited disorders localized to various layers of the cornea that affect corneal transparency and visual acuity. The deposition of insoluble protein materials in the form of extracellular deposits or intracellular cysts is pathognomic. Mutations in TGFBI are responsible for superficial and stromal corneal dystrophies. The gene product, transforming growth factor β induced protein (TGFBIp) accumulates as insoluble deposits in various forms. The severity, clinicopathogenic variations, age of the onset, and location of the deposits depend on the type of amino acid alterations in the protein. Until 2006, 38 different pathogenic mutants were reported for the TGFBI-associated corneal dystrophies. This number has increased to 63 mutants, reported in more than 30 countries. There is no effective treatment to prevent, halt, or reverse the deposition of TGFBIp. This review presents a complete mutation update, classification of phenotypes, comprehensive reported incidents of various mutations, and current treatment options and their shortcomings. Future research directions and possible approaches to inhibiting disease progression are discussed. |
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| Keywords: | amyloid corneal dystrophy granular corneal dystrophy IC3D classification lattice corneal dystrophy transforming growth factor β ALK" },{" #name" :" keyword" ," $" :{" id" :" kwrd0050" }," $$" :[{" #name" :" text" ," _" :" Anterior lamellar keratoplasty GCD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0060" }," $$" :[{" #name" :" text" ," _" :" Granular corneal dystrophy GCD1" },{" #name" :" keyword" ," $" :{" id" :" kwrd0070" }," $$" :[{" #name" :" text" ," _" :" Granular corneal dystrophy type 1 GCD2" },{" #name" :" keyword" ," $" :{" id" :" kwrd0080" }," $$" :[{" #name" :" text" ," _" :" Granular corneal dystrophy type 2 GSN" },{" #name" :" keyword" ," $" :{" id" :" kwrd0090" }," $$" :[{" #name" :" text" ," _" :" Gelsolin IC3D" },{" #name" :" keyword" ," $" :{" id" :" kwrd0100" }," $$" :[{" #name" :" text" ," _" :" International Committee for Classification of Corneal Dystrophies LASEK" },{" #name" :" keyword" ," $" :{" id" :" kwrd0110" }," $$" :[{" #name" :" text" ," _" :" Laser epithelial keratomeileusis LASIK" },{" #name" :" keyword" ," $" :{" id" :" kwrd0120" }," $$" :[{" #name" :" text" ," _" :" Laser-assisted in situ keratomeileusis LCD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0130" }," $$" :[{" #name" :" text" ," _" :" Lattice corneal dystrophy LCDI" },{" #name" :" keyword" ," $" :{" id" :" kwrd0140" }," $$" :[{" #name" :" text" ," _" :" Lattice corneal dystrophy type 1 MMC" },{" #name" :" keyword" ," $" :{" id" :" kwrd0150" }," $$" :[{" #name" :" text" ," _" :" Mitomycin-C PK" },{" #name" :" keyword" ," $" :{" id" :" kwrd0160" }," $$" :[{" #name" :" text" ," _" :" Penetrating keratoplasty PLT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0170" }," $$" :[{" #name" :" text" ," _" :" Photodynamic Laser Therapy PTK" },{" #name" :" keyword" ," $" :{" id" :" kwrd0180" }," $$" :[{" #name" :" text" ," _" :" Phototherapeutic keratectomy RBCD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0190" }," $$" :[{" #name" :" text" ," _" :" Reis-Bücklers corneal dystrophy TBCD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0200" }," $$" :[{" #name" :" text" ," _" :" Thiel-Behnke corneal dystrophy TEM" },{" #name" :" keyword" ," $" :{" id" :" kwrd0210" }," $$" :[{" #name" :" text" ," _" :" Transmission electron microscopy TGFBIp" },{" #name" :" keyword" ," $" :{" id" :" kwrd0220" }," $$" :[{" #name" :" text" ," _" :" Transforming growth factor β induced protein |
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