Genetics of eye diseases : an overview / Chitra Kannabiran.
Kannabiran, Chitra, author.
2019
RE906
Available Online

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Title Genetics of eye diseases : an overview / Chitra Kannabiran.
Author Kannabiran, Chitra, author.
ISBN 9789811371462 (electronic book)
9811371466 (electronic book)
9789811371455
DOI https://doi.org/10.1007/978-981-13-7146-2
https://doi.org/10.1007/978-981-13-7
Published Singapore : Springer, 2019.
Language English
Description 1 online resource (xi, 172 pages) : illustrations
Item Number 10.1007/978-981-13-7146-2 doi
10.1007/978-981-13-7
Call Number RE906
Dewey Decimal Classification 617.7/042
Summary This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.
Access Note Access limited to authorized users.
Digital File Characteristics text file PDF
Source of Description Online resource; title from PDF title page (SpringerLink, viewed May 10, 2019).
Available in Other Form Print version: 9789811371455
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Intro; Preface; Introduction and Scope of the Book; Contents; 1: Genetics in Corneal Diseases; 1.1 Corneal Dystrophies; 1.1.1 Introduction and Classification; 1.1.2 Epithelial and Subepithelial Corneal Dystrophies; 1.1.2.1 Meesmann Corneal Dystrophy (MECD); Manifestations and Clinical Features; Genetics; 1.1.2.2 Gelatinous Drop-Like Corneal Dystrophy (GDLD; MIM #204870 [Also Known as Subepithelial Amyloidosis, Primary Familial Amyloidosis]); Manifestations and Clinical Features; Genetics; 1.1.2.3 Lisch Epithelial Corneal Dystrophy (MIM 300778); Genetics; 1.1.3 Corneal Stromal Dystrophies

1.1.3.1 Macular Corneal Dystrophy (MCD, MCDC1 [OMIM 217800])Genetics; 1.1.3.2 Fleck Dystrophy (Central Cloudy Dystrophy of Francois; Francois-Neetens Fleck Corneal Dystrophy; CFD, MIM 121850); Manifestations; Genetics; 1.1.4 Corneal Dystrophies Associated with Mutations in the Transforming Growth Factor Beta-Induced (TGFBI) Gene; 1.1.4.1 Transforming Growth Factor-Induced (TGFBI) Gene; 1.1.4.2 Granular Corneal Dystrophy Type III (Reis-Bücklers Dystrophy; Cornea Dystrophy of Bowman Layer Type I (CDB1; CDRB); Geographic Corneal Dystrophy; OMIM 608470)

Manifestations and Clinical FeaturesGenetics; 1.1.4.3 Thiel-Behnke Corneal Dystrophy [(CDTB, CDB2); Curly Fiber Dystrophy; MIM 602082]; Genetics; 1.1.4.4 Granular Corneal Dystrophies Types I and II (MIM # 121900; 607541); Manifestations and Clinical Features; Genetics; 1.1.4.5 Lattice Corneal Dystrophy (LCD); 1.1.5 Corneal Endothelial Dystrophies; 1.1.5.1 Congenital Hereditary Endothelial Dystrophy (CHED); Genetics; 1.1.5.2 Posterior Polymorphous Corneal Dystrophy (PPCD); Genetics of PPCD; 1.1.5.3 Fuchs Endothelial Corneal Dystrophy (FECD); Genetics of FECD; Early-Onset FECD

Late-Onset FECD1.1.5.4 Genetics of Corneal Endothelial Dystrophies in Indian Patients; 1.2 Keratoconus; 1.2.1 Mapped Loci for Keratoconus; 1.2.2 Genes Associated with Keratoconus; References; 2: Genetics in Cataracts; 2.1 Congenital Cataracts; 2.1.1 Genetics of Congenital Cataract; 2.1.2 Mutations in Alpha-Crystallins; 2.1.2.1 Alpha A-Crystallin (CRYAA); 2.1.3 Mutations in Beta-Crystallins; 2.1.3.1 Acidic Beta-Crystallins; BetaA3/A1-Crystallin; Beta A2 and Beta A4-Crystallins; 2.1.3.2 Basic Beta-Crystallins; Crystallin Beta B1; Crystallin Beta B2

Animal Models of Cataract from Mutant Beta B2-Crystallin2.1.4 Mutations in Gamma-Crystallins; 2.1.4.1 Mutations in CRYGC; 2.1.4.2 Mutations in CRYGD; 2.1.4.3 Mutations in CRYGS; 2.1.5 Mutations in Genes Encoding Lens Membrane Proteins and Gap Junctions; 2.1.5.1 Connexin Genes; Mutations in GJA8/Connexin 50 in Indian Families; Autosomal Dominant Cataracts; Autosomal Recessive Cataracts; Mutations in GJA3 in Indian Families; 2.1.5.2 Lens Intrinsic Membrane Protein 2 (LIM2, MP19, MP20); LIM2 Mutations in Cataracts; 2.1.6 Mutations in Genes Encoding Transcription Factors; 2.1.6.1 MAF

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