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Article

Genetic Testing as a New Standard for Clinical Diagnosis of Color Vision Deficiencies

6 Sept 2016

Abstract excerpt

PURPOSE: The genetics underlying inherited color vision deficiencies is well understood: causative mutations change the copy number or sequence of the long (L), middle (M), or short (S) wavelength sensitive cone opsin genes. This study evaluated the potential of opsin gene analyses for use in clinical diagnosis of color vision defects. METHODS: We tested 1872 human subjects using direct sequencing of opsin genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27622081
DOI: 10.1167/tvst.5.5.2

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