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Ophthalmic Genetics Volume 39, 2018 - Issue 6
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Case Reports

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

Francesca PasuttoInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, GermanyCorrespondence[email protected]
,
Arif EkiciInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
,
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
,
Jan KremersDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
&
Cord HuchzermeyerDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
Pages 741-748 | Received 12 Apr 2018, Accepted 03 Sep 2018, Published online: 27 Sep 2018

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Elisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, Pina Fortunato, Roberto Caputo, Andrea Sodi, Julie De Zaeytijd, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Viviana Palazzo, Francesca Peluso, Elfride de Baere, Christina Zeitz, Bart P. Leroy, Jacopo Secci & Giacomo M. Bacci. (2023) Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. Ophthalmic Genetics 44:2, pages 152-162.
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Articles from other publishers (4)

Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig & Luigi Boccuto. (2023) Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature. Genes 14:2, pages 400.
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Meng Du, Yang Li, Panpan Zheng, Liang Zhong, Weili Zhao, Yuxin Zhang, Haiyan Gu, Xue Li & Zanchao Liu. (2022) Identification of a novel CACNA1F mutation in a Chinese family with CORDX3 . Molecular Genetics & Genomic Medicine 10:11.
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Alexandra Koschak, Monica L. Fernandez-Quintero, Thomas Heigl, Marco Ruzza, Hartwig Seitter & Lucia Zanetti. (2021) Cav1.4 dysfunction and congenital stationary night blindness type 2. Pflügers Archiv - European Journal of Physiology 473:9, pages 1437-1454.
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Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic & Ajoy Vincent. (2021) Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness. Genes 12:3, pages 330.
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