Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series

Author:

Marziali Elisa1ORCID,Van Den Broeck Filip2,Bargiacchi Sara3,Fortunato Pina1,Caputo Roberto1,Sodi Andrea4,De Zaeytijd Julie2,Murro Vittoria4,Mucciolo Dario Pasquale4ORCID,Giorgio Dario4,Passerini Ilaria5,Palazzo Viviana3,Peluso Francesca6ORCID,de Baere Elfride7ORCID,Zeitz Christina8,Leroy Bart P.279ORCID,Secci Jacopo1,Bacci Giacomo M.1

Affiliation:

1. Pediatric Ophthalmology Unit, Meyer Children’s Hospital, University of Florence, Florence, Italy

2. Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium

3. Medical Genetics Unit, Meyer Children’s Hospital, University of Florence, Florence, Italy

4. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy

5. Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy

6. Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy

7. Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium

8. INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France

9. Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, Inc, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

Funder

Ghent University Hospital Innovation Fund

the Health Program of the European Union

the Framework Partnership Agreement

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy;Klinische Monatsblätter für Augenheilkunde;2024-04-23

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