03668nam a22005055i 4500 978-981-96-0131-8 DE-He213 20251030114944.0 cr nn 008mamaa 250220s2024 si | s |||| 0|eng d 9789819601318 978-981-96-0131-8 10.1007/978-981-96-0131-8 doi RE1-994 MJQ bicssc MED063000 bisacsh MJQ thema TGFBI-related Corneal Dystrophies [electronic resource] : Clinical Findings, Cell Biology, and Genetics / edited by Eung Kweon Kim, R. Doyle Stulting. 1st ed. 2024. Singapore : Springer Nature Singapore : Imprint: Springer, 2024. IX, 128 p. 65 illus., 58 illus. in color. online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier text file PDF rda 1. Introduction -- 2. What is TGFBIp and what is its function? -- a.What are TGFBI corneal dystrophies.-I. History of TGFBI corneal dystrophies in Europe -- 3. Classification and mutations of TGFBI Corneal Dystrophies -- a. Dystrophies with deposits primarily in Bowman layer -- I. Reis–Bücklers corneal dystrophy (RBCD) -- II. Thiel–Behnke corneal dystrophy (TBCD) -- b. Dystrophies with deposits primarily in the stroma -- I. Lattice corneal dystrophy with TGFBI mutation -- II. Classic lattice corneal dystrophy (Lattice corneal dystrophy type 1; LCD1) -- III. Variants of lattice corneal dystrophy (III, IIIA, I/IIIA, and IV) -- c. Granular corneal dystrophy -- I. Granular corneal dystrophy type 1 (GCD1) -- II. Granular corneal dystrophy type 2 (GCD2, Avellino CD, Combined granular lattice CD) -- 4. Molecular pathogenesis of GCD2 and TGFBI corneal dystrophies -- 5. Proteolysis of TGFBIp -- 6. Genetics and gene therapy on the TGFBI corneal dystrophies. This book provides up-to-date information about the basic cell biology, protein processing mechanisms, genetics, and treatment strategies for TGFBI-related corneal dystrophies. Extensive illustrations document the clinical appearance of these dystrophies, and details of their cell biology provide our current understanding of intracellular pathologic mechanisms related to the mutated TGFBI protein. Descriptions of metabolic pathways involving TGFBI protein include recent information about the intracellular processing of normal and mutated TGFBI proteins. Detailed descriptions of the pathologic basis for TGFBI-related corneal dystrophies and possible strategies for human gene therapy are provided. This book offers a rich source of information about the pathogenesis, diagnosis, and treatment options for practicing ophthalmologists, specialists, and trainees. Ophthalmology. 72072 Genetics. 68863 Ophthalmology. 72072 Genetics. 68863 Kim, Eung Kweon. editor. edt http://id.loc.gov/vocabulary/relators/edt 90866 Stulting, R. Doyle. editor. edt http://id.loc.gov/vocabulary/relators/edt 90867 SpringerLink (Online service) Springer Nature eBook Printed edition: 9789819601301 Printed edition: 9789819601325 Printed edition: 9789819601332 https://doi.org/10.1007/978-981-96-0131-8 ZDB-2-SME ZDB-2-SXM 66740 66740