Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

doi:10.1016/j.preteyeres.2014.09.001

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Article

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Progress in retinal and eye research - 1 Mar 2015

Zeitz Christina, Robson Anthony G, Audo Isabelle

Abstract excerpt

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with more than 360 different mutations and more than 670 affected alleles have been associated with CSNB, including genes coding for proteins of the phototransduction cascade, those important for signal transmission from the photoreceptors to the bipolar cells or...

Topics

Animals
Disease Models, Animal
Electroretinography
Eye Diseases, Hereditary
Eye Proteins
Genetic Association Studies
Genetic Diseases, X-Linked
Genetic Therapy
Genotype
Humans
Mutation
Myopia
Night Blindness
Phenotype

Source

Open in PubMed

Identifiers

PMID: 25307992
DOI: 10.1016/j.preteyeres.2014.09.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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