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Retinal Degenerations: Genetics, Mechanisms, and Therapies Journal of Ophthalmology Retinal Degenerations: Genetics, Mechanisms, and Therapies Guest Editors: Ian M. MacDonald, Muna I. Naash, and Radha Ayyagari Retinal Degenerations: Genetics, Mechanisms, and Therapies Journal of Ophthalmology Retinal Degenerations: Genetics, Mechanisms, and Therapies Guest Editors: Ian M. MacDonald, Muna I. Naash, and Radha Ayyagari Copyright © 2011 Hindawi Publishing Corporation. All rights reserved. This is a special issue published in volume 2011 of “Journal of Ophthalmology.” All articles are open access articles distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Editorial Board Usha P. Andley, USA Pierre Lachapelle, Canada Cynthia Owsley, USA Susanne Binder, Austria Andrew G. Lee, USA Mansoor Sarfarazi, USA Anthony J. Bron, UK C. Kai-shun Leung, Hong Kong Naj Sharif, USA Chi-Chao Chan, USA Edward Manche, USA Torben Lykke Sørensen, Denmark David K. Coats, USA M. Mochizuki, Japan G. L. Spaeth, USA Lucian Del Priore, USA Lawrence S. Morse, USA Denis Wakefield, Australia Eric Eggenberger, USA Darius M. Moshfeghi, USA David A. Wilkie, USA Michel Eid Farah, Brazil Kathy T. Mullen, Canada Terri L. Young, USA Ian Grierson, UK Kristina Narfstrom,¨ USA Alon Harris, USA Neville Osborne, UK Contents Retinal Degenerations: Genetics, Mechanisms, and Therapies, Ian M. MacDonald, Muna I. Naash, and Radha Ayyagari Volume 2011, Article ID 764873, 2 pages An Update on the Genetics of Usher Syndrome,JoseM.Mill´ an,´ Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascension´ Gimenez-Pardo, and Carmen Ayuso Volume 2011, Article ID 417217, 8 pages Regulation of Posttranscriptional Modification as a Possible Therapeutic Approach for Retinal Neuroprotection, Yoko Ozawa, Toshihide Kurihara, Kazuo Tsubota, and Hideyuki Okano Volume 2011, Article ID 506137, 8 pages Effects of Calcium Ion, Calpains, and Calcium Channel Blockers on Retinitis Pigmentosa, Mitsuru Nakazawa Volume 2011, Article ID 292040, 7 pages Cellular Origin of Spontaneous Ganglion Cell Spike Activity in Animal Models of Retinitis Pigmentosa, David J. Margolis and Peter B. Detwiler Volume 2011, Article ID 507037, 6 pages Current Concepts in the Treatment of Retinitis Pigmentosa, Maria A. Musarella and Ian M. MacDonald Volume 2011, Article ID 753547, 8 pages Variables and Strategies in Development of Therapeutic Post-Transcriptional Gene Silencing Agents, Jack M. Sullivan, Edwin H. Yau, Tiffany A. Kolniak, Lowell G. Sheflin, R. Thomas Taggart, and Heba E. Abdelmaksoud Volume 2011, Article ID 531380, 31 pages Efficient Transduction of Feline Neural Progenitor Cells for Delivery of Glial Cell Line-Derived Neurotrophic Factor Using a Feline Immunodeficiency Virus-Based Lentiviral Construct, X. Joann You, Ping Gu, Jinmei Wang, Tianran Song, Jing Yang, Chee Gee Liew, and Henry Klassen Volume 2011, Article ID 378965, 11 pages Leber’s Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside, Rajeshwari D. Koilkonda and John Guy Volume 2011, Article ID 179412, 16 pages Conditional Gene Targeting: Dissecting the Cellular Mechanisms of Retinal Degenerations, Yun-Zheng Le Volume 2011, Article ID 806783, 8 pages Mouse Model Resources for Vision Research, Jungyeon Won, Lan Ying Shi, Wanda Hicks, Jieping Wang, Ronald Hurd, Jurgen¨ K. Naggert, Bo Chang, and Patsy M. Nishina Volume 2011, Article ID 391384, 12 pages The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness, Kristina Narfstrom,¨ Koren Holland Deckman, and Marilyn Menotti-Raymond Volume 2011, Article ID 906943, 8 pages Hindawi Publishing Corporation Journal of Ophthalmology Volume 2011, Article ID 764873, 2 pages doi:10.1155/2011/764873 Editorial Retinal Degenerations: Genetics, Mechanisms, and Therapies Ian M. MacDonald,1 Muna I. Naash,2 and Radha Ayyagari3 1 Department of Ophthalmology, University of Alberta, Royal Alexandra Hospital, 10240 Kingsway Avenue Room 2319, Edmonton, AB, Canada T5H 3V9 2 Department of Cell Biology, The University of Oklahoma Health Sciences Center, 940 Stanton L Young Boulevard, Oklahoma City, OK 73104, USA 3 Shiley Eye Center, University of California San Diego, 9415 Campus Point Drive, Room 206, La Jolla, CA 92093, USA Correspondence should be addressed to Radha Ayyagari, [email protected] Received 17 July 2011; Accepted 17 July 2011 Copyright © 2011 Ian M. MacDonald et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The cumulative results from genetic research and treatment that can be explained by impaired synaptic function in protocols tested on cell and animal models have improved retinal cells. We learn that two FDA-approved proteosome our understanding of pathobiology of inherited and degen- inhibitors, bortezomib and sorafenib, are now being tested erative eye diseases, and have lead to the development of a in clinical trials, targeting the ubiquitin-proteosome system, broad range of potential strategies to treat these conditions. and may have future applications in the treatment of retinal In this special issue of the Journal of Ophthalmology, a series degenerations. More background on mechanisms is provided of articles provide a review of various areas of current eye by Mitsura et al “Effects of Calcium Ion, Calpains, and research and clinical practice. Calcium Channel Blockers on Retinitis Pigmentosa”who A retinal degeneration phenotype is observed in several discuss the central role that apoptosis plays in the pathways nonsyndromic and syndromic disorders, which are genet- of retinal degeneration. Intracellular calcium increases with ically and phenotypically heterogeneous. Usher syndrome, apoptosis, activating calpains that in turn trigger caspase- the commonest cause of deaf-blindness, is characterized mediated events. They explain how calpain inhibitors and by retinal degeneration, hearing loss, and, in some cases, calcium channel antagonists may modulate photoreceptor abnormal vestibular function. Usher syndrome has been degeneration and advocate for expanded human trials tar- classified into three forms based on the age of onset, severity geting this pathway. of retinal degeneration, and hearing loss. So far, nine genes Several advances have been made in developing ther- associated with Usher syndrome have been identified. In apeutic strategies to treat retinal degenerations, and the this issue, Millan´ et al. “An Update on the Genetics of success of these approaches to restore vision in patients with Usher Syndrome” review the genetics of Usher syndrome, retinal degeneration may depend on the functional integrity providing a composite picture of the complexity of genetic of retinal ganglion cells. Using animal models, Margolis and and phenotypic heterogeneity as associated with retinal Detwiler “Cellular Origin of Spontaneous Ganglion Cell Spike degenerations. Activity in Animal Models of Retinitis Pigmentosa”demon- As an introduction to basic mechanisms, Ozawa and strate ganglion cell spike discharge occurs in the absence of colleagues “Regulation of Posttranscriptional Modification as photoreceptors and explain the cellular origin of this activity. a Possible Therapeutic Approach for Retinal Neuroprotection” Loss of photoreceptors in retinal degeneration can alter the discuss how the ubiquitin-proteosome system is recruited as synaptic activity of ganglion cells and understanding this part of chorioretinal inflammation and diabetic retinopathy. phenomenon is critical for developing successful therapies In patients with diabetic retinopathy, clinical electrophys- for retinal degenerations. An article by Musarella and iology will reveal an effect on the oscillatory potentials MacDonald “Current Concepts in the Treatment of Retinitis 2 Journal of Ophthalmology Pigmentosa” provides a synopsis of the current treatments this issue, Narfstrom¨ et al. “The Domestic Cat as a Large of retinitis pigmentosa including the use of pharmacologic Animal Model for Characterization of Disease and Therapeutic agents, nutritional therapies, stem cell approaches, artificial Intervention in Hereditary Retinal Blindness”describetwo retinal implants, neuroprotective agents (CNTF, GDNF, and feline models of human retinal dystrophies due to mutations others), and gene therapy. Some of these approaches are in the Cep290 and Crx genes. Cats with large eye size and exemplified in papers from this special issue, with more a cone-rich, area centralis may serve as valuable models to in depth discussion of the treatment of specific monogenic study human retinal degeneration and evaluate therapeutic diseases such as Leber hereditary optic neuropathy (LHON) strategies. and animal models of human disease. Sullivan et al. “Vari- Recent advances in retinal degeneration research and the ables and Strategies in Development of Therapeutic Post- advent of new therapies improve our understanding of these Transcriptional Gene Silencing Agents”presentanoverview conditions and provide hope for patients and families with on various strategies used in the development of therapies retinal degenerations. by post-transcriptional gene silencing. These strategies are effective in silencing the mutant target mRNA in dominant Ian M. MacDonald hereditary conditions or a normal wildtype mRNA that is Muna I. Naash over expressed. 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