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Genetics of eye diseases : an overview
- Author / Creator
- Available as
- Online
Details
- Creator
- Chitra Kannabiran
- Format
- Books
- Language
- English
- Publication
-
- Singapore : Springer, 2019
- Physical Details
-
- 1 online resource (xi, 172 pages) : color illustrations
- ISBNs
- 9789811371462, 9811371466, 9789811371455
- OCLC
- on1100767713
- 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