TGFBI-related Corneal Dystrophies (eBook, PDF)

Clinical Findings, Cell Biology, and Genetics
Redaktion: Kim, Eung Kweon; Stulting, R. Doyle

• Format: PDF

Produktbeschreibung

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.

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Produktdetails

• Verlag: Springer Nature Singapore
• Seitenzahl: 128
• Erscheinungstermin: 20. Februar 2025
• Englisch
• ISBN-13: 9789819601318
• Artikelnr.: 73428248

Autorenporträt

Eung Kweon Kim, MD, PhD, Emeritus, Department of Ophthalmology, Severance Hospital, Seoul, Korea R. Doyle Stulting, MD, PhD, Director, Stulting Research Center, Emeritus, Department of Ophthalmology, Emory University, USA

Inhaltsangabe

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.