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Ophthalmic Genetics Volume 39, 2018 - Issue 1
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Research Reports

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent

Adda VillanuevaRetina Department Genomics Institute, Mejora Vision MD/Virtual Eye Care MD, Mérida, Yucatán, México;Laboratoire de Diagnostic Moleculaire, Hôpital Maisonneuve Rosemont, Montreal, Quebec, CanadaView further author information
,
Pooja BiswasSchool of Biotechnology, REVA University, Bengaluru, India;Shiley Eye Institute, University of California San Diego, La Jolla, CA, USAView further author information
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Kameron KishabaShiley Eye Institute, University of California San Diego, La Jolla, CA, USAView further author information
,
John SukShiley Eye Institute, University of California San Diego, La Jolla, CA, USAView further author information
,
Keerti TadimetiShiley Eye Institute, University of California San Diego, La Jolla, CA, USAView further author information
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Pongali B RaghavendraSchool of Biotechnology, REVA University, Bengaluru, IndiaView further author information
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Karine NadeauRetina Department Genomics Institute, Mejora Vision MD/Virtual Eye Care MD, Mérida, Yucatán, México;Laboratoire de Diagnostic Moleculaire, Hôpital Maisonneuve Rosemont, Montreal, Quebec, CanadaView further author information
,
Bruno LamontagneRetina Department Genomics Institute, Mejora Vision MD/Virtual Eye Care MD, Mérida, Yucatán, México;Laboratoire de Diagnostic Moleculaire, Hôpital Maisonneuve Rosemont, Montreal, Quebec, CanadaView further author information
,
Lambert BusqueRetina Department Genomics Institute, Mejora Vision MD/Virtual Eye Care MD, Mérida, Yucatán, México;Laboratoire de Diagnostic Moleculaire, Hôpital Maisonneuve Rosemont, Montreal, Quebec, CanadaView further author information
,
Steve GeoffroyMontreal Heart Institute, Université de Montréal, Montreal, Canada;Université de Montréal Beaulieu-Saucier Pharmacogenomics Center, Montreal Heart Institute, Université de Montréal, Montreal, CanadaView further author information
,
Ian MongrainMontreal Heart Institute, Université de Montréal, Montreal, Canada;Université de Montréal Beaulieu-Saucier Pharmacogenomics Center, Montreal Heart Institute, Université de Montréal, Montreal, CanadaView further author information
,
Géraldine AsselinMontreal Heart Institute, Université de Montréal, Montreal, Canada;Université de Montréal Beaulieu-Saucier Pharmacogenomics Center, Montreal Heart Institute, Université de Montréal, Montreal, CanadaView further author information
,
Sylvie ProvostMontreal Heart Institute, Université de Montréal, Montreal, Canada;Université de Montréal Beaulieu-Saucier Pharmacogenomics Center, Montreal Heart Institute, Université de Montréal, Montreal, CanadaView further author information
,
Marie-Pierre DubéMontreal Heart Institute, Université de Montréal, Montreal, Canada;Université de Montréal Beaulieu-Saucier Pharmacogenomics Center, Montreal Heart Institute, Université de Montréal, Montreal, Canada;Department of Medicine, Université de Montréal, Montreal, CanadaORCID Iconhttp://orcid.org/0000-0001-8442-4393View further author information
ORCID Icon,
Eric NudlemanShiley Eye Institute, University of California San Diego, La Jolla, CA, USAView further author information
&
Radha AyyagariShiley Eye Institute, University of California San Diego, La Jolla, CA, USACorrespondence[email protected]
View further author information
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Pages 73-79 | Received 25 Jan 2017, Accepted 27 Aug 2017, Published online: 25 Sep 2017

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Dhimas H. Sakti, Elisa E. Cornish, Benjamin M. Nash, Robyn V. Jamieson & John R. Grigg. (2023) IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search. Ophthalmic Genetics 44:5, pages 437-455.
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Articles from other publishers (6)

Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno & Malena Daich Varela. (2023) Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. npj Genomic Medicine 8:1.
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Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim & Suk Ho Byeon. (2023) Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. Korean Journal of Ophthalmology 37:2, pages 166-186.
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Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato & M. Dominik Fischer. (2022) Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. Advances in Therapy 39:3, pages 1179-1198.
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Rosario Lopez-Rodriguez, Esther Lantero, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin Merida, Marta del Pozo-Valero, Irene Perea-Romero, Olga Zurita, Belén Jiménez-Rolando, Saoud Tahsin Swafiri, Rosa Riveiro-Alvarez, María José Trujillo-Tiebas, Ester Carreño Salas, Blanca García-Sandoval, Marta Corton & Carmen Ayuso. (2021) RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients. Experimental Eye Research 212, pages 108761.
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Pooja Biswas, Adda L. Villanueva, Angel Soto-Hermida, Jacque L. Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y. Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L. Goldberg, Luis Gabriel, Naheed W. Khan, Pongali B. Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G. Weleber, John R. Heckenlively, J. Fielding Hejtmancik, Sheikh Riazuddin, Paul A. Sieving, S. Amer Riazuddin, Kelly A. Frazer & Radha Ayyagari. (2021) Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLOS Genetics 17:10, pages e1009848.
Crossref
Zhen Yi, Christina Zeitz, Takeshi Iwata, J. Fielding Hejtmancik & Qingjiong Zhang. 2021. Advances in Vision Research, Volume III. Advances in Vision Research, Volume III 181 196 .

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