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Original Article

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

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Pages 39-44 | Accepted 25 Apr 1995, Published online: 08 Jul 2009

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Narsis Daftarian, Mehraban Mirrahimi, Hamideh Sabbaghi, Afrooz Moghadasi, Niloufar Zal, Hossein Dehghan Banadaki, Hamid Ahmadieh & Fatemeh Suri. (2019) PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. Ophthalmic Genetics 40:5, pages 436-442.
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Satoshi Katagiri, Takaaki Hayashi, Kei Mizobuchi, Kazutoshi Yoshitake, Takeshi Iwata & Tadashi Nakano. (2018) Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic Genetics 39:3, pages 357-365.
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Mai M. Abd El-Aziz, Mohamed F. El-Ashry, Isabel Barragan, Irene Marcos, Salud Borrego, Guillermo Antiñolo & Shomi S. Bhattacharya. (2005) Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus. Current Eye Research 30:12, pages 1081-1087.
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Ulf Ekström, Vesna Ponjavic, Magnus Abrahamson, Peter Nilsson-Ehle, Sten Andréasson, Ingeborg Stenström & Berndt Ehinger. (1998) Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS. Ophthalmic Genetics 19:1, pages 27-37.
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I.M. MacDonald, P.M. Haney & M.A. Musarella. (1998) Summary of ocular genetic disorders and inherited systemic conditions with eye findings. Ophthalmic Genetics 19:1, pages 1-17.
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Bertrand Piguet, Elise Héon, Frasncis L. Munier, Pierre Alain Grounauer, Gunter Niemeyer, Noah Butler, Daniel F. Schorderet, Val C. Sheffield & Edwin M. Stone. (1996) Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genetics 17:4, pages 175-186.
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Articles from other publishers (28)

Larissa Ikelle, Mustafa Makia, Tylor Lewis, Ryan Crane, Mashal Kakakhel, Shannon M. Conley, James R. Birtley, Vadim Y. Arshavsky, Muayyad R. Al-Ubaidi & Muna I. Naash. (2023) Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones. Cellular and Molecular Life Sciences 80:8.
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Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang & Qingjiong Zhang. (2023) New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. International Journal of Molecular Sciences 24:7, pages 6728.
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João Paulo Kazmierczak de Camargo, Giovanna Nazaré de Barros Prezia, Naoye Shiokawa, Mario Teruo Sato, Roberto Rosati & Angelica Beate Winter Boldt. (2022) New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy—Beyond Classical Gene Candidates. Frontiers in Genetics 13.
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Lars Tebbe, Haarthi Sakthivel, Mustafa S. Makia, Mashal Kakakhel, Shannon M. Conley, Muayyad R. Al‐Ubaidi & Muna I. Naash. (2022) Prph2 disease mutations lead to structural and functional defects in the RPE . The FASEB Journal 36:5.
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Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, Caroline C. W. Klaver, L. Ingeborgh Born, Carel B. Hoyng, Frans P. M. Cremers, Anneke I. Hollander, Claire‐Marie Dhaenens & Rob W. J. Collin. (2021) PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease . Human Mutation 42:12, pages 1521-1547.
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Weining Rong, Huiping Li & Xunlun Sheng. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 93 111 .
Kiyoko Gocho, Keiichiro Akeo, Naoko Itoh, Shuhei Kameya, Takaaki Hayashi, Satoshi Katagiri, Tamaki Gekka, Yasuhiro Ohkuma, Hiroshi Tsuneoka & Hiroshi Takahashi. (2016) High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation . Ophthalmic Surgery, Lasers and Imaging Retina 47:12, pages 1115-1126.
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Anurag Narula, Shilpa Singh, Sunil Chakravarty & Sapna Chanana. (2014) CENTRAL AREOLAR MACULAR DYSTROPHY: A CASE REPORT AND REVIEW OF LITERATURE. Journal of Evolution of Medical and Dental Sciences 3:24, pages 6610-6612.
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Dibyendu Chakraborty, Karla K. Rodgers, Shannon M. Conley & Muna I. Naash. (2012) Structural characterization of the second intra‐discal loop of the photoreceptor tetraspanin RDS . The FEBS Journal 280:1, pages 127-138.
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Elliott H. Sohn, Robert F. Mullins & Edwin M. Stone. 2013. Retina. Retina 852 890 .
Rosa M. Coco, Juan J. Tellena, M. Rosa Sanabria, Enrique Rodríguez-Rúa & M. Teresa García. (2018) PRPH2 (Peripherin/RDS) Mutations Associated with Different Macular Dystrophies in a Spanish Population: A New Mutation. European Journal of Ophthalmology 20:4, pages 724-732.
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Farah Ouechtati, Olfa Belhadj Tahar, Amin Mhenni, Sonia Chakroun, Ibtissem Chouchene, Souad Oueslati, Ahmed Rebai, Sonia Abdelhak & Amel Jeddi-Blouza. (2009) Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus. Journal of Human Genetics 54:10, pages 589-594.
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SEEMA ANAND, EAMONN SHERIDAN, FRANCES CASSIDY, CHRIS INGLEHEARN, GRANGE WILLIAMS, KELLY SPRINGELL, VICTORIA ALLGAR, THU-LAN KELLY & MARTIN McKIBBIN. (2009) MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS. Retina 29:5, pages 682-688.
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Camiel J.F. Boon, Anneke I. den Hollander, Carel B. Hoyng, Frans P.M. Cremers, B. Jeroen Klevering & Jan E.E. Keunen. (2008) The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Progress in Retinal and Eye Research 27:2, pages 213-235.
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Andrew F.X. Goldberg. 2006. 131 175 .
Michel Michaelides, Graham E. Holder, Keith Bradshaw, David M. Hunt & Anthony T. Moore. (2005) Cone–Rod Dystrophy, Intrafamilial Variability, and Incomplete Penetrance Associated with the R172W Mutation in the Peripherin/RDS Gene. Ophthalmology 112:9, pages 1592-1598.
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Patrik Schatz, Magnus Abrahamson, Louise Eksandh, Vesna Ponjavic & Sten Andréasson. (2003) Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene) . Acta Ophthalmologica Scandinavica 81:5, pages 500-507.
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Larry A. Donoso, Gregory Hageman, Arcilee Frost, Val Sheffield, John Beck, Marc Hebert & Ian M. MacDonald. (2003) Autosomal dominant macular dystrophy in a large Canadian family. Canadian Journal of Ophthalmology 38:1, pages 33-40.
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Artur V. Cideciyan. 2000. Vertebrate Phototransduction and the Visual Cycle, Part B. Vertebrate Phototransduction and the Visual Cycle, Part B 611 626 .
U. Ekstrom, V. Ponjavic, S. Andreasson, B. Ehinger, P. Nilsson-Ehle & M. Abrahamson. (1998) Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system. Molecular Pathology 51:5, pages 287-291.
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R. E. Kelsell, K. Gregory-Evans, A. M. Payne, I. Perrault, J. Kaplan, R.-B. Yang, D. L. Garbers, A. C. Bird, A. T. Moore & D. M. Hunt. (1998) Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy. Human Molecular Genetics 7:7, pages 1179-1184.
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Rosemary E. Kelsell, Kevin Gregory-Evans, Cheryl Y. Gregory-Evans, Graham E. Holder, Marcelle R. Jay, Bernhard H.F. Weber, Anthony T. Moore, Alan C. Bird & David M. Hunt. (1998) Localization of a Gene (CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q. The American Journal of Human Genetics 63:1, pages 274-279.
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Claire Angel Moody, O.D. (1998) Central areolar choroidal dystrophy: A case report. Clinical Eye and Vision Care 10:1, pages 21-25.
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Annette M. Payne, Susan M. Downes, David A.R. Bessant, Alan C. Bird & Shomi S. Bhattacharya. (1998) Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene. The American Journal of Human Genetics 62:1, pages 192-195.
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MJ Trujillo, J Bueno, A Osorio, R Sanz, B Garcia-Sandoval, C Ramos & C Ayuso. (1998) Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations. Human Mutation 12:1, pages 70-70.
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Debora B Farber & Michael Danciger. (1997) Identification of genes causing photoreceptor degenerations leading to blindness. Current Opinion in Neurobiology 7:5, pages 666-673.
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Ute Felbor, Harald Schilling & Bernhard H. F. Weber. (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Human Mutation 10:4, pages 301-309.
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Anthony T. Moore & Kevin Evans MD FRCOphth. (2009) Molecular genetics of central retinal dystrophies. Australian and New Zealand Journal of Ophthalmology 24:3, pages 189-196.
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