Humana, 2022. — 402 p.
This volume details the history of Retinitis Pigmentosa and current treatment options. Chapters guide readers through CRISPR, gene therapy, stem cell therapy, next-generation sequencing methods, gene editing, and translational applications of other therapies to the treatment of Retinitis Pigmentosa. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls.
Authoritative and cutting-edge, Retinitis Pigmentosaaims to be a useful practical guide to researches to help further their study in this field.
Foreword
Preface
Contributors
Introduction and Discovery of Retinitis Pigmentosa
Etiology of Retinitis Pigmentosa
Clinical Evaluation of Patients with Retinitis Pigmentosa
Molecular Genetic Testing Approaches for Retinitis Pigmentosa
Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa
Whole Genome Sequencing for Detection of Structural Variants in Patients with Retinitis Pigmentosa
Fundus Photography Methodologies to Assess RP Patients
The Use of Optical Coherence Tomography in Evaluation of Retinitis Pigmentosa
Optical Coherence Tomography Angiography (OCTA) Findings in Retinitis Pigmentosa
Electroretinogram (ERG) to Evaluate the Retina in Cases of Retinitis Pigmentosa (RP)
Visual Function Tests: Visual Fields
Visual Function Tests
Visual Acuity as a Measurement of Visual Function
Measure of Visual Function
Ophthalmic Fluorescein Angiography
Protocol for Indocyanine Green Angiography
Use of the Medmont Dark-Adapted Chromatic Perimeter for Assessing Rod Function in Retinitis Pigmentosa
Multi-luminance Mobility Testing Endpoint
Preclinical Models of Retinitis Pigmentosa
Electroretinogram (ERG) to Evaluate the Retina Using Mouse Models
Autofluorescence Imaging to Evaluate Retinal Disease Progression in Rodent
Large Animal Models of Retinitis Pigmentosa in Therapy Development and Preclinical Testing
CRISPR Manipulations in Stem Cell Lines
Metabolite Extraction from RPE Cells and Retinas Related to Retinitis Pigmentosa
CRISPR-Mediated Genome Engineering in Cell Lines
CRISPR Off-Target Analysis Platforms
Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery
Culture of Human Retinal Explants for Ex Vivo Assessment of AAV Gene Delivery
Prime Editing for the Installation and Correction of Mutations Causing Inherited Retinal Disease: A Brief Methodol...
Large-Scale Single-Nucleus RNA Sequencing Compatible with Complex Archived Samples
Vector Shedding and Immunogenicity Sampling in AAV-Based Gene Therapy for Retinitis Pigmentosa Patients
Current Management Options for Patients with Retinitis Pigmentosa
Challenges of Treatment Methodologies and the Future of Gene Therapy and Stem Cell Therapy to Treat Retinitis Pigm...
Ocular Injection Techniques for Retinitis Pigmentosa: Intravitreal, Subretinal, and Suprachoroidal
Surgical Approach with Pars Plana Vitrectomy for Subretinal Gene Therapy
Index