Inherited Eye Diseases Diagnosis and Management 2nd Edition by Saul Merin ISBN 1574448390 9781574448399 by Saul Merin 9781574448399, 1574448390 instant download after payment.

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ISBN 10: 1574448390 
ISBN 13: 9781574448399
Author: Saul Merin

Inherited Eye Diseases Diagnosis and Management 2nd Table of contents:

Part 1: Foundations of Ophthalmic Genetics

• Chapter 1: Introduction to Inherited Eye Diseases
  • Prevalence and Impact of Genetic Eye Conditions
  • The Spectrum of Inherited Ocular Disorders
  • Why a Genetic Diagnosis Matters: Prognosis, Management, and Family Planning
  • Current Landscape of Research and Therapy
• Chapter 2: Basic Principles of Ocular Genetics
  • Mendelian Inheritance Patterns (Autosomal Dominant, Recessive, X-Linked)
  • Mitochondrial Inheritance
  • Complex Inheritance and Polygenic Disorders
  • Penetrance, Expressivity, and Genetic Heterogeneity
  • Overview of Gene Structure and Function
• Chapter 3: Genetic Counseling in Ophthalmology
  • The Role of the Genetic Counselor
  • Family History Taking and Pedigree Analysis
  • Risk Assessment and Communication
  • Navigating Genetic Test Results: Positive, Negative, and Variants of Uncertain Significance (VUS)
  • Ethical, Legal, and Social Implications of Genetic Testing
  • Reproductive Options and Preimplantation Genetic Diagnosis (PGD)

Part 2: Diagnostic Approaches for Inherited Eye Diseases

• Chapter 4: Clinical Ophthalmic Examination and Phenotyping
  • Comprehensive Ophthalmic Assessment for Genetic Conditions
  • Visual Acuity and Refractive Errors
  • Slit Lamp Biomicroscopy (Anterior and Posterior Segment)
  • Funduscopic Examination and Retinal Changes
  • Visual Field Testing
  • Color Vision Assessment
  • Electrophysiological Testing (ERG, EOG, VEP)
  • Ocular Motility and Strabismus Evaluation
• Chapter 5: Advanced Ocular Imaging
  • Optical Coherence Tomography (OCT) and OCT Angiography (OCTA)
  • Fundus Autofluorescence (FAF)
  • Fluorescein Angiography (FA) and Indocyanine Green Angiography (ICG-A)
  • Ultra-Widefield Imaging
  • Adaptive Optics Imaging
  • Electrophysiological Imaging (e.g., multifocal ERG)
• Chapter 6: Molecular Genetic Testing Methodologies
  • Sanger Sequencing (Traditional Gene-by-Gene Analysis)
  • Next-Generation Sequencing (NGS):
    • Gene Panel Testing
    • Whole Exome Sequencing (WES)
    • Whole Genome Sequencing (WGS)
  • Copy Number Variation (CNV) Analysis
  • Mitochondrial DNA Sequencing
  • RNA Sequencing and Functional Studies
  • Interpreting Genetic Reports and Clinical Correlates

Part 3: Management Strategies for Inherited Eye Diseases

• Chapter 7: General Management Principles
  • Patient Education and Empowerment
  • Monitoring Disease Progression
  • Correction of Refractive Errors
  • Low Vision Aids and Rehabilitation (Optical, Electronic, Digital)
  • Occupational and Physical Therapy for Associated Symptoms
  • Psychosocial Support and Counseling for Patients and Families
  • Multidisciplinary Team Approach
• Chapter 8: Surgical Management in Inherited Eye Diseases
  • Cataract Surgery in Genetic Syndromes
  • Glaucoma Surgery for Inherited Glaucomas
  • Corneal Transplantation for Dystrophies
  • Retinal Detachment Repair in Dystrophies (e.g., Stickler Syndrome)
  • Strabismus Surgery for Ocular Motor Disorders
• Chapter 9: Pharmacological and Nutritional Interventions
  • Neuroprotection Strategies
  • Anti-VEGF Therapy (where applicable)
  • Vitamin Supplementation (e.g., Vitamin A for certain RPs, antioxidants)
  • Topical and Systemic Medications for Associated Conditions (e.g., inflammation, CME)

Part 4: Specific Inherited Eye Diseases: Diagnosis and Management

• Chapter 10: Inherited Retinal Dystrophies (IRDs)
  • Retinitis Pigmentosa (RP) and Related Rod-Cone Dystrophies
    • Clinical Features, Genetics, and Progression
    • Diagnostic Workup and Differential Diagnosis
    • Management: Low Vision, Gene Therapy (e.g., RPE65-associated LCA/RP), Emerging Therapies
  • Macular Dystrophies
    • Stargardt Disease (ABCA4)
    • Best Vitelliform Macular Dystrophy (BEST1)
    • Cone and Cone-Rod Dystrophies
    • Diagnosis, Phenotypic Variability, and Current Management
  • Leber Congenital Amaurosis (LCA) and Early Onset Retinal Dystrophies
    • Genetic Basis, Clinical Spectrum, and Severity
    • Diagnostic Challenges and Management Approaches
    • Gene Therapy (e.g., Luxturna for RPE65) and Future Directions
  • Choroideremia
    • Clinical Manifestations, X-linked Inheritance
    • Diagnosis and Monitoring
    • Gene Therapy Trials and Outcomes
  • Usher Syndrome
    • Combined Retinal and Hearing Loss
    • Types and Genetic Basis
    • Diagnosis, Management of Dual Sensory Impairment
  • Other Rare Retinal Dystrophies (e.g., Bardet-Biedl Syndrome, Gyrate Atrophy)
• Chapter 11: Inherited Optic Neuropathies
  • Leber Hereditary Optic Neuropathy (LHON)
    • Mitochondrial Inheritance, Clinical Course
    • Diagnosis, Genetic Testing, and Counseling
    • Current and Emerging Therapies (e.g., Idebenone, Gene Therapy Trials)
  • Dominant Optic Atrophy (DOA)
    • OPA1 Gene and Phenotypic Variability
    • Diagnosis, Associated Systemic Features
    • Management and Support
  • Other Inherited Optic Atrophies (e.g., Optic Atrophy "plus" syndromes)
• Chapter 12: Inherited Glaucomas
  • Primary Congenital Glaucoma (PCG)
    • Genetics, Presentation, and Surgical Management
  • Juvenile Open-Angle Glaucoma (JOAG)
    • MYOC Gene and Other Genetic Loci
    • Diagnosis and Medical/Surgical Management
  • Glaucoma Associated with Systemic Syndromes
• Chapter 13: Inherited Corneal Dystrophies
  • Fuchs' Endothelial Corneal Dystrophy
  • Lattice, Granular, Macular Dystrophies
  • Keratoconus (Genetic Predisposition)
  • Diagnosis, Corneal Imaging, and Surgical Interventions (e.g., DSAEK, PKP)
• Chapter 14: Inherited Lens and Anterior Segment Disorders
  • Congenital Cataracts (Genetic Forms)
  • Aniridia (PAX6 Gene) and Associated Complications
  • Peter's Anomaly and Axenfeld-Rieger Syndrome
  • Diagnosis and Management of Complex Anterior Segment Anomalies

Part 5: Future Directions and Emerging Therapies

• Chapter 15: Gene Therapy for Inherited Eye Diseases
  • Overview of Gene Therapy Modalities (Gene Augmentation, Gene Editing - CRISPR/Cas9, Antisense Oligonucleotides)
  • Viral and Non-Viral Delivery Systems
  • Current Approved Therapies (e.g., Luxturna)
  • Ongoing Clinical Trials and Promising Targets
  • Challenges and Limitations: Immunogenicity, Delivery, Cost
• Chapter 16: Stem Cell and Regenerative Medicine Approaches
  • Induced Pluripotent Stem Cells (iPSCs) in Disease Modeling and Therapy
  • Retinal Organoids and 3D Culture Systems
  • Clinical Trials in Stem Cell Transplantation for Retinal Degenerations
  • Potential and Hurdles of Cell-Based Therapies
• Chapter 17: Artificial Vision and Retinal Prosthetics
  • Retinal Implants (e.g., Argus II, Alpha IMS)
  • Optogenetic Strategies
  • Brain-Computer Interfaces for Vision
  • Current Status, Efficacy, and Future Prospects
• Chapter 18: Personalized Medicine and the Future of Ophthalmic Genetics
  • Pharmacogenomics in Eye Disease Treatment
  • Big Data and AI in Diagnosis and Prognosis
  • Developing Targeted Therapies for Specific Genotypes
  • The Role of Biomarkers in Monitoring and Treatment Response
  • Preventive Strategies Based on Genetic Risk

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