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Ophthalmic Paediatrics and Genetics Volume 13, 1992 - Issue 3
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Original Article

A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation

Sten Andréasson Department of Ophthalmology, Lund University Hospital, Lund, Sweden
,
Berndt Ehinger Department of Ophthalmology, Lund University Hospital, Lund, Sweden
,
Magnus Abrahamson Department of Clinical Chemistry, Lund University Hospital, Lund, Sweden
&
Göran Fex Department of Clinical Chemistry, Lund University Hospital, Lund, Sweden
Pages 145-153 | Accepted 14 Apr 1992, Published online: 08 Jul 2009

Citations (60)

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Louise Eksandh, Sten Andréasson & Magnus Abrahamson. (2005) Juvenile X-Linked Retinoschisis with Normal Scotopic b-Wave in the Electroretinogram at an Early Stage of the Disease. Ophthalmic Genetics 26:3, pages 111-117.
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Aleksandar Stojanovic & John Hwa. (2002) Rhodopsin and Retinitis Pigmentosa: Shedding Light on Structure and Function. Receptors and Channels 8:1, pages 33-50.
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B. Schroeder, L. Hesse, W. Brück & A. Gal. (1997) A mild phenotype of autosomal dominant retinitis pigmentosa is associated. Ophthalmic Genetics 18:2, pages 64-70.
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Vesna Ponjavic, Magnus Abrahamson, Sten Andréasson, Hans Van Bokhoven, Frans P. M. Cremers, Berndt Ehinger & GÖRan Fex. (1995) Phenotype variations within a choroideremia family lacking the entire CHM gene. Ophthalmic Genetics 16:4, pages 143-150.
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Masamichi Saga, Yukihiko Mashima, Kiyoshi Akeo, Yoshihisa Oguchi, Jun Kudoh & Nobuyoshi Shimizu. (1994) Autosomal dominant retinitis pigmentosa: A Mutation in Codon 1 81 (Glu → Lys) Of the Rhodopsin Gene in a Japanese Family. Ophthalmic Genetics 15:2, pages 61-67.
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Pooja Biswas, Shyamanga Borooah, Hiroko Matsui, Marina Voronchikhina, Jason Zhou, Qais Zawaydeh, Pongali B. Raghavendra, Henry Ferreyra, S. Amer Riazuddin, Karl Wahlin, Kelly A. Frazer & Radha Ayyagari. (2020) Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model . Human Mutation 42:2, pages 189-199.
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Yuan Wu, Yi Guo, Junhui Yi, Hongbo Xu, Lamei Yuan, Zhijian Yang & Hao Deng. (2019) Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors . Bioscience Reports 39:7.
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Inmaculada Martin-Merida, Domingo Aguilera-Garcia, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Olga Zurita, Berta Almoguera, Blanca Garcia-Sandoval, Almudena Avila-Fernandez, Ana Arteche, Pablo Minguez, Miguel Carballo, Marta Corton & Carmen Ayuso. (2018) Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. Investigative Opthalmology & Visual Science 59:6, pages 2345.
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Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran JayasunderaSarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran Jayasundera. 2018. Retinal Dystrophy Gene Atlas. Retinal Dystrophy Gene Atlas 215 218 .
Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Marta Corton, Maria-Jose Trujillo-Tiebas, Ascension Gimenez, Almudena Avila-Fernandez, Blanca Garcia-Sandoval, Maria-Isabel Lopez-Molina, Inma Hernan, Miguel Carballo, Rosa Riveiro-Alvarez & Carmen Ayuso. (2015) Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families . Acta Ophthalmologica 93:1, pages e38-e44.
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Eugenia V. Gurevich, John J.G. Tesmer, Arcady Mushegian & Vsevolod V. Gurevich. (2012) G protein-coupled receptor kinases: More than just kinases and not only for GPCRs. Pharmacology & Therapeutics 133:1, pages 40-69.
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Ivan I. Senin, Laia Bosch, Eva Ramon, Evgeni Yu. Zernii, Joan Manyosa, Pavel P. Philippov & Pere Garriga. (2006) Ca2+/recoverin dependent regulation of phosphorylation of the rhodopsin mutant R135L associated with retinitis pigmentosa. Biochemical and Biophysical Research Communications 349:1, pages 345-352.
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Sten Andréasson. (2006) Developments in molecular genetics and electrophysiology in inherited retinal disorders. Acta Ophthalmologica Scandinavica 84:2, pages 161-168.
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Jen-Zen Chuang, Carrie Vega, Wenjin Jun & Ching-Hwa Sung. (2004) Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes. Journal of Clinical Investigation 114:1, pages 131-140.
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E. M. Vingolo, R. Allingham, C. Palitto, L. Scipioni & L. Iacobelli. 1999. Retinal Degenerative Diseases and Experimental Therapy. Retinal Degenerative Diseases and Experimental Therapy 251 258 .
Vesna Ponjavic, Magnus Abrahamson, Sten Andréasson, Berndt Ehinger & Göran Fex. (2009) Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg‐135‐Trp). Acta Ophthalmologica Scandinavica 75:2, pages 218-223.
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Andreas Gal, Eckart Apfelstedt-Sylla, Andreas R. Janecke & Eberhart Zrennert. (1997) Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Progress in Retinal and Eye Research 16:1, pages 51-79.
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Mario R. Pannarale, Barbara Grammatico, Alessandro Iannaccone, Renato Forte, Carmelilia De Bernardo, Luisa Flagiello, Enzo M. Vingolo & Giuseppe Del Porto. (1996) Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene. Ophthalmology 103:9, pages 1443-1452.
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Stephen P. Daiger, Lori S. Sullivan & Joseph A. Rodriguez. (2010) Genetic and functional complexity of inherited retinal degeneration. Behavioral and Brain Sciences 18:3, pages 501-521.
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Robert S. Molday & Yi-Te Hsu. (2010) Further insight into the structural and regulatory properties of the cGMP-gated channel. Behavioral and Brain Sciences 18:3, pages 500-501.
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Zhengui Xia & Daniel R. Storm. (2010) Evidence that the type I adenylyl cyclase may be important for neuroplasticity: Mutant mice deficient in the gene for type I adenylyl cyclase show altered behavior and LTP. Behavioral and Brain Sciences 18:3, pages 498-500.
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James B. Hurley. (2010) Recoverin, a calcium-binding protein in photoreceptors. Behavioral and Brain Sciences 18:3, pages 497-498.
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M. Deric Bownds & Vadim Y. Arshavsky. (2010) How many light adaptation mechanisms are there?. Behavioral and Brain Sciences 18:3, pages 496-497.
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Paul A. Hargrave. (2010) Future directions for rhodopsin structure and function studies. Behavioral and Brain Sciences 18:3, pages 495-496.
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Akio Yamazaki. (2010) Is the lifetime of light-stimulated cGMP phosphodiesterase regulated by recoverin through its regulation of rhodopsin phosphorylation?. Behavioral and Brain Sciences 18:3, pages 494-494.
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Barry M. Willardson, Tatsuro Yoshida & Mark W. Bitensky. (2010) Cyclic nucleotides as regulators of light-adaptation in photoreceptors. Behavioral and Brain Sciences 18:3, pages 493-494.
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Theodore G. Wensel & Joseph K. Angleson. (2010) More answers about cGMP-gated channels pose more questions. Behavioral and Brain Sciences 18:3, pages 492-493.
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Douglas Wahlsten. (2010) The genetic kaleidoscope of vision. Behavioral and Brain Sciences 18:3, pages 490-492.
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Makoto Tamai. (2010) Glutamate accumulation in the photoreceptor-presumed final common path of photoreceptor cell death. Behavioral and Brain Sciences 18:3, pages 490-490.
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Ken Takamatsu. (2010) A novel protein family of neuronal modulators. Behavioral and Brain Sciences 18:3, pages 489-490.
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Steven O. Smith. (2010) Nuclear magnetic resonance studies on the structure and function of rhodopsin. Behavioral and Brain Sciences 18:3, pages 488-489.
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Paul P. M. Schnetkamp. (2010) Na-Ca + K exchanger and Ca 2+ homeostasis in retinal rod outer segments: Inactivation of the Ca 2+ efflux mode and possible involvement of intracellular Ca 2+ stores in Ca 2+ homeostasis . Behavioral and Brain Sciences 18:3, pages 488-488.
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Kamon Sanada & Yoshitaka Fukada. (2010) Unique lipids and unique properties of retinal proteins. Behavioral and Brain Sciences 18:3, pages 486-487.
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Mandeep S. Sagoo & Leon Lagnado. (2010) Modulation of the cGMP-gated channel by calcium. Behavioral and Brain Sciences 18:3, pages 486-486.
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Erik D. Roberson & J. David Sweatt. (2010) Regulation of adenylyl cyclase in LTP. Behavioral and Brain Sciences 18:3, pages 485-486.
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Mark M. Rasenick. (2010) Adenylyl cyclase, G proteins, and synaptic plasticity. Behavioral and Brain Sciences 18:3, pages 484-485.
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Arthur S. Polans & Grazyna Adamus. (2010) Recoverin is the tumor antigen in cancerassociated retinopathy. Behavioral and Brain Sciences 18:3, pages 483-484.
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Daniel D. Oprian. (2010) Structure of the cGMP-gated channel. Behavioral and Brain Sciences 18:3, pages 482-483.
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James F. McGinnis. (2010) Gene therapy, regulatory mechanisms, and protein function in vision. Behavioral and Brain Sciences 18:3, pages 481-482.
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H. R. Matthews & G. L. Fain. (2010) Reduced cytoplasmic calcium concentration may be both necessary and sufficient for photoreceptor light adaptation. Behavioral and Brain Sciences 18:3, pages 481-481.
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Karl-Wilhelm Koch. (2010) Crucial steps in photoreceptor adaptation: Regulation of phosphodiesterase and guanylate cyclase activities and Ca 2+ -buffering . Behavioral and Brain Sciences 18:3, pages 480-481.
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Satoru Kawamura. (2010) Unsolved issues in S-modulin/recoverin study. Behavioral and Brain Sciences 18:3, pages 479-480.
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Michael W. Kaplan. (2010) Linking genotypes with phenotypes in human retinal degenerations: Implications for future research and treatment. Behavioral and Brain Sciences 18:3, pages 478-479.
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Richard L. Hurwitz, Devesh Srivastava & Mary Y. Hurwitz. (2010) Channel structure and divalent cation regulation of phototransduction. Behavioral and Brain Sciences 18:3, pages 478-478.
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Warren Heideman. (2010) Long term potentiation and CaM-sensitive adenylyl cyclase: Long-term prospects. Behavioral and Brain Sciences 18:3, pages 477-478.
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Lawrence W. Haynes. (2010) Structure and physiology of photoreceptor cGMP-gated cation channels. Behavioral and Brain Sciences 18:3, pages 476-477.
Crossref
Mark P. Gray-Keller & Peter B. Detwiler. (2010) Does calmodulin play a functional role in phototransduction?. Behavioral and Brain Sciences 18:3, pages 475-476.
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R. Michael Garavito. (2010) The atomic structure of visual rhodopsin: How and when?. Behavioral and Brain Sciences 18:3, pages 474-475.
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Edward A. Dratz. (2010) The key to rhodopsin function lies in the structure of its interface with transducin. Behavioral and Brain Sciences 18:3, pages 473-474.
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Rosalie K. Crouch & D. Wesley Corson. (2010) The structure of rhodopsin and mechanisms of visual adaptation. Behavioral and Brain Sciences 18:3, pages 472-473.
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R. Lane Brown & Jeffrey W. Karpen. (2010) Molecular insights gained from covalently tethering cGMP to the ligand-binding sites of retinal rod cGMP-gated channels. Behavioral and Brain Sciences 18:3, pages 471-472.
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A. A. B. Bergen. (2010) Genetic and clinical heterogeneity in tapetal retinal dystrophies. Behavioral and Brain Sciences 18:3, pages 470-471.
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Colin J. Barnstable. (2010) Mechanisms of photoreceptor degenerations. Behavioral and Brain Sciences 18:3, pages 470-470.
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Arlene D. Albert & Philip L. Yeagle. (2010) The determination of rhodopsin structure may require alternative approaches. Behavioral and Brain Sciences 18:3, pages 469-469.
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Thomas W. Abrams. (2010) Calcium/calmodulin-sensitive adenylyl cyclase as an example of a molecular associative integrator. Behavioral and Brain Sciences 18:3, pages 468-469.
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Stephen P. Daiger, Lori S. Sullivan & Joseph A. Rodriguez. (2010) Correlation of phenotype with genotype in inherited retinal degeneration. Behavioral and Brain Sciences 18:3, pages 452-467.
Crossref
ALAN C. BIRD. (1995) Retinal Photoreceptor Dystrophies LI. Edward Jackson Memorial Lecture. American Journal of Ophthalmology 119:5, pages 543-562.
Crossref
Samuel G. Jacobson, Colin M. Kemp, Artur V. Cideciyan & Jeremy Nathans. 1995. Basic and Clinical Perspectives in Vision Research. Basic and Clinical Perspectives in Vision Research 53 62 .
P J Rosenfeld, V A McKusick, J S Amberger & T P Dryja. (1994) Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.. Journal of Medical Genetics 31:12, pages 903-915.
Crossref
Marianne Haim & Thomas Rosenberg. (2009) Retinitis pigmentosa and allied disorders in Denmark. Acta Ophthalmologica 71:5, pages 597-605.
Crossref

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