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Article

Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).

Channels (Austin, Tex.) - 1 Jan 2018

Waldner D M, Giraldo Sierra N C, Bonfield S, Nguyen L, Dimopoulos I S, Sauvé Y, Stell W K, Bech-Hansen N T

Abstract excerpt

Congenital stationary night blindness 2A (CSNB2A) is an X-linked retinal disorder, characterized by phenotypically variable signs and symptoms of impaired vision. CSNB2A is due to mutations in CACNA1F, which codes for the pore-forming α1F subunit of a L-type voltage-gated calcium channel, Cav1.4. Mouse models of CSNB2A, used for characterizing the effects of various Cacna1f mutations, have revealed greater...

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Identifiers

PMID: 29179637
DOI: 10.1080/19336950.2017.1401688
PMCID: PMC5972796

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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