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Article

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Ophthalmology - 1 Apr 2010

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

Abstract excerpt

OBJECTIVE: To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the cause of progressive cone dystrophy (CD). DESIGN: Prospective multicenter study. PARTICIPANTS: Probands (N = 60) with autosomal recessive (ar) CD from various ophthalmogenetic clinics in The Netherlands. METHODS: All available ophthalmologic data from the arCD probands were registered from medical charts and...

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Source

Identifiers

PMID: 20079539
DOI: 10.1016/j.ophtha.2009.09.008

Genes

CNGA3
CNGB3

Variants

Provenance

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