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 PMID:33117610  

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A).

Derek M Waldner | Kenichi Ito | Li-Li Chen | Lisa Nguyen | Robert L Chow | Amy Lee | Derrick E Rancourt | Francois Tremblay | William K Stell | N Torben Bech-Hansen
Translational vision science & technology | 2020

Congenital stationary night blindness 2A (CSNB2A) is a genetic retinal disorder characterized by poor visual acuity, nystagmus, strabismus, and other signs of retinal dysfunction resulting from mutations in Cacna1f-the gene coding for the pore-forming subunit of the calcium channel CaV1.4. Mouse models of CSNB2A have shown that mutations causing the disease deleteriously affect photoreceptors and their synapses with second-order neurons. This study was undertaken to evaluate whether transgenic expression of Cacna1f could rescue morphology and visual function in a Cacna1f-KO model of CSNB2A.

Pubmed ID: 33117610

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