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Last Updated: 01/07/2026

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Found 299 publications

A New Gene for Congenital Stationary Night Blindness.

A New Gene for Congenital Stationary Night Blindness.

Journal: JAMA ophthalmology
Published: December 04, 2025

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

Journal: JAMA ophthalmology
Published: December 04, 2025

Gene augmentation therapy treats mature mice with complete congenital stationary night blindness (cCSNB), improving retinal function and visual acuity.

Gene augmentation therapy treats mature mice with complete congenital stationary night blindness (cCSNB), improving retinal function and visual acuity.

Journal: bioRxiv : the preprint server for biology
Published: August 06, 2025

Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing.

Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing.

Journal: Ophthalmic genetics
Published: July 31, 2025

Congenital Stationary Night Blindness.

Congenital Stationary Night Blindness.

Journal: Advances in experimental medicine and biology
Published: July 30, 2025

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: July 14, 2025

Quantitative proteomics identifies potential molecular adaptations in mouse models of congenital stationary night blindness type 2.

Quantitative proteomics identifies potential molecular adaptations in mouse models of congenital stationary night blindness type 2.

Journal: Molecular & cellular proteomics : MCP
Published: May 26, 2025

Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment.

Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment.

Journal: Investigative ophthalmology & visual science
Published: December 03, 2024

Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.

Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.

Journal: Journal of clinical medicine
Published: November 22, 2024

Gene therapy shines light on congenital stationary night blindness for future cures.

Gene therapy shines light on congenital stationary night blindness for future cures.

Journal: Journal of translational medicine
Published: November 13, 2024

Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.

Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.

Journal: Life science alliance
Published: October 31, 2024

Genetic testing as a tool for diagnosis of congenital stationary night blindness (CSNB) in white spotted breeds in Poland.

Genetic testing as a tool for diagnosis of congenital stationary night blindness (CSNB) in white spotted breeds in Poland.

Journal: Journal of equine veterinary science
Published: October 16, 2024
Showing 1-12 of 299

Last Updated: 01/07/2026