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Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Ophthalmic genetics - 1 Sept 2013

Doucette Lance, Green Jane, Black Coleman, Schwartzentruber Jeremy, Johnson Gordon J, Galutira Dante, Young Terry-Lynn

Abstract excerpt

Achromatopsia (ACHM) is a severe retinal disorder characterized by an inability to distinguish colors, impaired visual acuity, photophobia and nystagmus. This rare autosomal recessive disorder of the cone photoreceptors is best known for its increased frequency due to founder effect in the Pingelapese population of the Pacific islands. Sixteen patients from Newfoundland, Canada were sequenced for mutations in the...

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Source

Identifiers

PMID: 23362848
DOI: 10.3109/13816810.2013.763993

Genes

CNGA3
CNGB3
GNAT2

Variants

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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