X-Linked Congenital Stationary Night Blindness Latest Advances

Find the Latest Research About X-Linked Congenital Stationary Night Blindness

Last Updated: 09/26/2026

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Found 307 publications

Congenital stationary night blindness with a fundus albipunctatus-like yellow-dotted retina associated with compound heterozygous RPE65 variants: A case report.

Congenital stationary night blindness with a fundus albipunctatus-like yellow-dotted retina associated with compound heterozygous RPE65 variants: A case report.

Journal: Retinal cases & brief reports
Published: July 14, 2026

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

Journal: International journal of molecular sciences
Published: April 17, 2026

Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families.

Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families.

Journal: Genes
Published: March 05, 2026

Are There Night Driving Restrictions for Patients with Incomplete Congenital Stationary Night Blindness?

Are There Night Driving Restrictions for Patients with Incomplete Congenital Stationary Night Blindness?

Journal: Klinische Monatsblatter fur Augenheilkunde
Published: February 17, 2026

Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.

Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.

Journal: International journal of ophthalmology
Published: February 04, 2026

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: December 30, 2025

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

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.

Journal: Human mutation
Published: September 26, 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
Showing 1-12 of 307

Last Updated: 09/26/2026