Main description:

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 Pigmentosa aims to be a useful practical guide to researches to help further their study in this field.

Contents:

1. Introduction and History of Retinitis Pigmentosa

Hung-Hsi Wang, Nelson Chen, Nan-Kai Wang

2 Etiology of Retinitis Pigmentosa

Mark P. Breazzano, Maeher Grewal, Stephen H. Tsang, and Royce W.S. Chen

3. Clinical Evaluation of Patients with Retinitis Pigmentosa

Sitara H. Hirji

4. Molecular Genetic Testing Approaches for Retinitis Pigmentosa

Megan Soucy, Akemi Joy Tanaka, and Avinash Dharmadhikari

5. Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa

Ioana Scherbakova and Sara D. Ragi

6. Whole Genome Sequencing for Detection of Structural Variants in Patients with Retinitis Pigmentosa

Alexander H. Chai

7. Fundus Imaging Methodologies to Assess RP patients

Jin Kyun Oh, Joseph Ryu, and Stephen H Tsang

8. The Use of Optical Coherence Tomography in Evaluation of Retinitis Pigmentosa

Ha Min Kim, Jin Kyun Oh, Stephen H. Tsang

9. Optical Coherence Tomography Angiography (OCTA) findings in Retinitis Pigmentosa

Vlad Diaconita and Wei Kiong Ngo

10. ERG to Evaluate the Retina in Cases of Retinitis Pigmentosa

Wan-Chun Huang, Pei-Kang Liu, and Nan-Kai Wang

11. Visual Function Tests: Visual Fields

Angela Y. Chang

12. Visual Function Tests

Ritah Chumdermpadetsuk, Sara D. Ragi, and Stephen H. Tsang

13. Visual Acuity as a Measurement of Visual Function

Zachary E. Snow

14. Measure of Visual Function

Sitara H. Hirji

15. Ophthalmic Fluorescein Angiography

Divin R. Baddam, Sara D. Ragi, Stephen H. Tsang, and Wei Kiong Ngo

16. Indocyanine Green Angiography

Divin R. Baddam, Sara D. Ragi, Stephen H. Tsang, and Wei Kiong Ngo

17. Use of the Medmont Dark-Adapted Chromatic Perimeter for Assessing Rod Function in Retinitis Pigmentosa

Yan Nuzbrokh, Sara Ragi, and Stephen H. Tsang

18. Multi-Luminance Mobility Testing Endpoint

Henry W. Zhou

19. Preclinical Models of Retinitis Pigmentosa

Mark D. Travor

20. ERG to evaluate the retina using mouse models

Pei-Kang Liu, Wan-Chun Huang, and Nan-Kai Wang

21. Autofluorescence Imaging to Evaluate Retinal Disease Progression in Rodent

Chia-Hua Cheng and Xuan Cui

22. Large animal models of retinitis pigmentosa in therapy development and preclinical testing

Laurence M Occelli and Simon M Petersen-Jones

23. CRISPR manipulations in stem cell lines

Ya-Ju Chang, Xuan Cui, Sarah R. Levi, Laura A. Jenny, and Stephen H. Tsang

24. Metabolite extraction from RPE cells and retinas related to retinitis pigmentosa

Xuan Cui, Ya-Ju Chang, Laura A. Jenny, Sarah R. Levi, Jianhai Du, and Stephen H. Tsang

25. CRISPR-mediated genome engineering in cell lines

Ya-Ju Chang, Joseph Ryu, Xuan Cui, and Stephen H Tsang

26. CRISPR off-targeting

Christine L. Xu, Merry Zhechao Ruan, Sara D. Ragi, and Stephen H. Tsang

27. CRISPR manipulations in stem cell lines

Ya-Ju Chang, Xuan Cui, Sara D. Ragi, and Stephen H. Tsang

28. Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery

Amy Tso, Bruna Lopes da Costa, Laura A. Jenny, Sarah R. Levi, Alexandra Fehnel, Sara D. Ragi, Yao Li, and Peter M.J. Quinn

29. Culture of Human Retinal Explants for Ex Vivo Assessment of AAV Gene Delivery

Wen-Hsuan Wu, Amy Tso, Mark P. Breazzano, Sarah R. Levi, Laura A. Jenny, Stephen H. Tsang, and Peter M.J. Quinn

30. Prime Editing for the Installation and Correction of Mutations causing Inherited Retinal Disease: A Brief Methodology

Yi-Ting Tsai, Bruna Lopes da Costa, Nicholas D. Nolan, Salvatore M. Caruso, Laura A. Jenny, Sarah R. Levi, Stephen H. Tsang, and Peter M.J. Quinn

31. Large scale single-nucleus RNA sequencing compatible with complex archived samples

Chao-Yu Liu and Hsu-Hsin Chen

32. Vector Shedding and Immunogenicity Sampling in AAV-based Gene Therapy for Retinitis Pigmentosa Patients

Ahra Cho

33. Current Management Options for Patients with Retinitis Pigmentosa

Abinaya Thenappan

34. Challenges of Treatment Methodologies and the Future of Gene Therapy and Stem Cell Therapy to Treat Retinitis Pigmentosa

Angela Y. Chang

35. Ocular Injection Techniques for Retinitis Pigmentosa: Intravitreal, Subretinal, and Suprachoroidal

Ioana Scherbakova, Sara D. Ragi, and Tarun Sharma

36. Surgical Approach with Pars Plana Vitrectomy for Subretinal Gene Therapy

Mark P. Breazzano, Sean A. Batson, Stephen H. Tsang, and Royce W.S. Chen