Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis Communicated by Andrew Wilkie This article is a US Government work and, as such, is in the public domain in the United States of America.
dc.contributor.author | Cideciyan, Artur V. | en_US |
dc.contributor.author | Aleman, Tomas S. | en_US |
dc.contributor.author | Jacobson, Samuel G. | en_US |
dc.contributor.author | Khanna, Hemant | en_US |
dc.contributor.author | Sumaroka, Alexander | en_US |
dc.contributor.author | Aguirre, Geoffrey K. | en_US |
dc.contributor.author | Schwartz, Sharon B. | en_US |
dc.contributor.author | Windsor, Elizabeth A. M. | en_US |
dc.contributor.author | He, Shirley | en_US |
dc.contributor.author | Chang, Bo | en_US |
dc.contributor.author | Stone, Edwin M. | en_US |
dc.contributor.author | Swaroop, Anand | en_US |
dc.date.accessioned | 2007-12-04T18:34:50Z | |
dc.date.available | 2008-11-05T15:05:43Z | en_US |
dc.date.issued | 2007-11 | en_US |
dc.identifier.citation | Cideciyan, Artur V.; Aleman, Tomas S.; Jacobson, Samuel G.; Khanna, Hemant; Sumaroka, Alexander; Aguirre, Geoffrey K.; Schwartz, Sharon B.; Windsor, Elizabeth A.M.; He, Shirley; Chang, Bo; Stone, Edwin M.; Swaroop, Anand (2007). "Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis Communicated by Andrew Wilkie This article is a US Government work and, as such, is in the public domain in the United States of America. ." Human Mutation 28(11): 1074-1083. <http://hdl.handle.net/2027.42/57387> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/57387 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17554762&dopt=citation | |
dc.description.abstract | Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore the mechanisms of the human retinal disease, we studied CEP290 -LCA in patients of different ages (7–48 years) and compared results to Cep290 -mutant mice. Unexpectedly, blind CEP290 -mutant human retinas retained photoreceptor and inner laminar architecture in the cone-rich central retina, independent of severity of visual loss. Surrounding the cone-rich island was photoreceptor loss and distorted retina, suggesting neural-glial remodeling. The mutant mouse retina at 4–6 weeks of age showed similar features of retinal remodeling, with altered neural and synaptic laminae and Muller glial activation. The visual brain pathways in CEP290 -LCA were anatomically intact. Our findings of preserved foveal cones and visual brain anatomy in LCA with CEP290 mutations, despite severe blindness and rapid rod cell death, suggest an opportunity for visual restoration of central vision in this common form of inherited blindness. Hum Mutat 28(11),1074–1083, 2007. Published 2007 Wiley-Liss, Inc. | en_US |
dc.format.extent | 592183 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis Communicated by Andrew Wilkie This article is a US Government work and, as such, is in the public domain in the United States of America. | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences and Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences and Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology and Visual Sciences and Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania ; Scheie Eye Institute, 51 North 39th Street, Philadelphia, PA 19104 | en_US |
dc.contributor.affiliationother | Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania | en_US |
dc.contributor.affiliationother | Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania | en_US |
dc.contributor.affiliationother | Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania | en_US |
dc.contributor.affiliationother | Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania | en_US |
dc.contributor.affiliationother | Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania | en_US |
dc.contributor.affiliationother | Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania | en_US |
dc.contributor.affiliationother | The Jackson Laboratory, Bar Harbor, Maine | en_US |
dc.contributor.affiliationother | Howard Hughes Medical Institute and Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa | en_US |
dc.identifier.pmid | 17554762 | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/57387/1/20565_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/humu.20565 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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