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Article

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Ophthalmology - 1 Oct 2009

Thiadens Alberta A H J, Slingerland Niki W R, Roosing Susanne, van Schooneveld Mary J, van Lith-Verhoeven Janneke J C, van Moll-Ramirez Norka, van den Born L Ingeborgh, Hoyng Carel B, Cremers Frans P M, Klaver Caroline C W

Abstract excerpt

OBJECTIVE: To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations, phenotype at diagnosis, and visual prognosis. DESIGN: Clinic-based, longitudinal, multicenter study. PARTICIPANTS: Probands with complete ACHM (n = 35), incomplete ACHM (n = 26), or nonspecific ACHM (n = 2) and their affected relatives (n = 18) from various...

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Source

Identifiers

PMID: 19592100
DOI: 10.1016/j.ophtha.2009.03.053

Genes

CNGB3
CNGA3
GNAT2

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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