Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

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 Netherlan...

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Veröffentlicht in:	Ophthalmology (Rochester, Minn.) Minn.), 2010-04, Vol.117 (4), p.825-830.e1
Hauptverfasser:	Thiadens, Alberta A.H.J., MD, Roosing, Susanne, Collin, Rob W.J., PhD, van Moll-Ramirez, Norka, MD, van Lith-Verhoeven, Janneke J.C., MD, PhD, van Schooneveld, Mary J., MD, PhD, den Hollander, Anneke I., PhD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Biological and medical sciences Child Color Perception Tests Color Vision Defects - diagnosis Color Vision Defects - genetics Cyclic Nucleotide-Gated Cation Channels - genetics DNA Mutational Analysis Electroretinography Female Humans Male Medical sciences Middle Aged Miscellaneous Mutation Ophthalmology Pedigree Polymerase Chain Reaction Prospective Studies Retinal Cone Photoreceptor Cells - pathology Retinal Degeneration - diagnosis Retinal Degeneration - genetics Vision disorders Visual Acuity - physiology
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