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Ophthalmic Genetics Volume 28, 2007 - Issue 3
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Research Report

Retinal Dysfunction in Carriers of Bardet-Biedl Syndrome

Linda S. Kim Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
,
Gerald A. Fishman Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
,
William H. Seiple Department of Ophthalmology, New York University School of Medicine, New York, New York, USA; Research and Development Service, Jesse Brown Veterans Administration Medical Center, West Side Division, Chicago, Illinois, USA
,
Janet P. Szlyk Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA; Research and Development Service, Jesse Brown Veterans Administration Medical Center, West Side Division, Chicago, Illinois, USA
&
Edwin M. Stone Department of Ophthalmology, The University of Iowa Carver College of Medicine and the Howard Hughes Medical Institute, Iowa City, Iowa, USA
Pages 163-168 | Received 12 Dec 2006, Accepted 19 Mar 2007, Published online: 08 Jul 2009

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Gabriel Guardiola, Fabiola Ramos & Natalio Izquierdo. (2021) Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene. International Medical Case Reports Journal 14, pages 459-463.
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Articles from other publishers (14)

Lucia Ziccardi, Lucilla Barbano, Giulio Antonelli, Ettore Cioffi, Antonio Di Renzo, Valeria Gioiosa, Christian Marcotulli, Andrzej Grzybowski, Carlo Casali & Vincenzo Parisi. (2022) Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia. Diagnostics 12:12, pages 3135.
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Anne M. Slavotinek. 2021. Cassidy and Allanson's Management of Genetic Syndromes. Cassidy and Allanson's Management of Genetic Syndromes 107 123 .
Tianchang Tao, Lei Wang, Weihua Chong, Liping Yang & Genlin Li. (2020) Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome. International Ophthalmology 40:9, pages 2325-2343.
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Chang-Jun Zhang, Lue Xiang, Xue-Jiao Chen, Xiao-Yun Wang, Kun-Chao Wu, Bo-Wen Zhang, De-Fu Chen, Guang-Hui Jin, Hang Zhang, Yu-Chen Chen, Wei-Qin Liu, Meng-Lan Li, Yue Ma & Zi-Bing Jin. (2020) Ablation of Mature miR-183 Leads to Retinal Dysfunction in Mice. Investigative Opthalmology & Visual Science 61:3, pages 12.
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Samuel M. Peterson, Trevor J. McGill, Teresa Puthussery, Jonathan Stoddard, Lauren Renner, Anne D. Lewis, Lois M.A. Colgin, Jacqueline Gayet, Xiaojie Wang, Kamm Prongay, Cassandra Cullin, Brandy L. Dozier, Betsy Ferguson & Martha Neuringer. (2019) Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. Experimental Eye Research 189, pages 107825.
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Shazia Khan, Siying Lin, Gaurav V. Harlalka, Asmat Ullah, Khadim Shah, Sumbul Khalid, Sarmad Mehmood, Muhammad Jawad Hassan, Wasim Ahmad, Jay E. Self, Andrew H. Crosby, Emma L. Baple & Asma Gul. (2019) BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan . Annals of Human Genetics 83:6, pages 477-482.
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Evgeny N. Suspitsin & Evgeny N. Imyanitov. (2016) Bardet-Biedl Syndrome. Molecular Syndromology 7:2, pages 62-71.
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A Praidou, R Hagan, H Nayak & A Chandna. (2014) Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet–Biedl syndrome. Eye 28:9, pages 1136-1142.
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Elizabeth Forsythe & Philip L Beales. (2012) Bardet–Biedl syndrome. European Journal of Human Genetics 21:1, pages 8-13.
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Adriana Berezovsky, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Nívea Nunes Cavascan & Solange Rios Salomão. (2012) Visual acuity and retinal function in patients with Bardet-Biedl syndrome. Clinics 67:2, pages 145-149.
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Judy Savige, Sujiva Ratnaike & Deb Colville. (2011) Retinal Abnormalities Characteristic of Inherited Renal Disease. Journal of the American Society of Nephrology 22:8, pages 1403-1415.
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Norann A. ZaghloulYangjian LiuJantje M. GerdesCecilia Gascue, Edwin C. OhCarmen C. LeitchYana Bromberg, Jonathan Binkley, Rudolph L. Leibel, Arend Sidow, Jose L. Badano & Nicholas Katsanis. (2010) Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome. Proceedings of the National Academy of Sciences 107:23, pages 10602-10607.
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Anne M. Slavotinek. 2010. Management of Genetic Syndromes. Management of Genetic Syndromes 111 127 .
Vidyullatha Vasireddy, Monica M. Jablonski, Naheed W. Khan, Xiao Fei Wang, Priya Sahu, Janet R. Sparrow & Radha Ayyagari. (2009) Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin. Experimental Eye Research 89:6, pages 905-912.
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