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

Hemizygous pathogenic variants in 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 limited know...

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Veröffentlicht in:	Genes 2021-02, Vol.12 (3), p.330
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Human health and pathology Life Sciences Sensory Organs
Online-Zugang:	Volltext
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