Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limi...

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Detalles Bibliográficos
Autores principales: Leahy, Kate E, Wright, Tom, Grudzinska Pechhacker, Monika K, Audo, Isabelle, Tumber, Anupreet, Tavares, Erika, MacDonald, Heather, Locke, Jeff, VandenHoven, Cynthia, Zeitz, Christina, Heon, Elise, Buncic, J Raymond, Vincent, Ajoy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996180/
https://www.ncbi.nlm.nih.gov/pubmed/33668843
http://dx.doi.org/10.3390/genes12030330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996180/
https://www.ncbi.nlm.nih.gov/pubmed/33668843
http://dx.doi.org/10.3390/genes12030330

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