Optic Atrophy and Inner Retinal Thinning in

Adolescent Adult Aged Child Electroretinography Eye Diseases, Hereditary / diagnostic imaging Female Genetic Diseases, X-Linked / diagnostic imaging Humans Male Middle Aged Myopia / diagnostic imaging Night Blindness / diagnostic imaging Optic Atrophy / diagnostic imaging Refraction, Ocular Retina / diagnostic imaging Retrospective Studies Tomography, Optical Coherence / methods Young Adult
CACNA1F calcium channels/genetics electroretinography eye diseases hereditary myopia night blindness/congenital optic atrophy optical coherence retinal bipolar cells retinal ganglion cells tomography

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
25 02 2021
Historique:
received: 31 12 2020
revised: 06 02 2021
accepted: 20 02 2021
entrez: 6 3 2021
pubmed: 7 3 2021
medline: 3 8 2021
Statut: epublish

Résumé

Hemizygous pathogenic variants in

Identifiants

DOI: 10.3390/genes12030330 PMID: 33668843 PMC: PMC7996180
pubmed: 33668843
pii: genes12030330
doi: 10.3390/genes12030330
pmc: PMC7996180
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.

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Auteurs

Kate E Leahy (KE)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
ORCID: 0000-0003-2287-5513

Tom Wright (T)

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
Kensington Eye Institute, Toronto, ON M5T 3A9, Canada.
ORCID: 0000-0001-5071-9978

Monika K Grudzinska Pechhacker (MK)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
ORCID: 0000-0001-7007-461X

Isabelle Audo (I)

INSERM, CNRS, Institut de la Vision, Sorbonne Université, 75012, Paris, France.
CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.
Institute of Ophthalmology, University College of London, London WC1E 6BT, UK.
ORCID: 0000-0003-0698-5309

Anupreet Tumber (A)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Erika Tavares (E)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Heather MacDonald (H)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Jeff Locke (J)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Cynthia VandenHoven (C)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Christina Zeitz (C)

INSERM, CNRS, Institut de la Vision, Sorbonne Université, 75012, Paris, France.
ORCID: 0000-0002-3510-1712

Elise Heon (E)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

J Raymond Buncic (JR)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.

Ajoy Vincent (A)

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
ORCID: 0000-0001-6446-3846

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électrorétinographie › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies génétiques liées au chromosome X › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Maladies de l'oeil › Troubles de la réfraction oculaire › Myopie › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Maladies de l'oeil › Héméralopie › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Maladies de l'oeil › Atteintes du nerf optique › Atrophie optique › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Phénomènes physiologiques oculaires › Réfraction oculaire › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Organes des sens › Oeil › Rétine › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Techniques d'investigation › Imagerie optique › Tomographie optique › Tomographie par cohérence optique › Optic Atrophy and Inner Retinal Thinning in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Optic Atrophy and Inner Retinal Thinning in