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S. Johnson, M. Michaelides, I.A. Aligianis, R.C. Trembath, J. Ainsworth, E.R. Maher, A.T. Moore, D.M. Hunt; Achromatopsia Associated with Mutations in CNGA3 and CNGB3 . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2300.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To perform mutation analysis of the genes CNGA3 and CNGB3 in patients with achromatopsia. Methods: A panel of patients with achromatopsia was ascertained from two British clinical centres. The diagnosis was established via ophthalmological examination, electrodiagnostic testing and psychophysical assessment. Blood samples were taken for DNA extraction for use in mutation screening of CNGA3 and CNGB3. Results: Six novel mutations were found in CNGA3 and seven novel mutations in the gene CNGB3. In addition, previously described mutations in both of these genes were detected, including the 1148delC mutation, which is the most commonly detected mutation in CNGB3 to date. This mutation was also found most frequently in our panel of patients. Conclusions: We report novel mutations in both the CNGA3 and CNGB3 genes. Mutations in CNGB3 and CNGA3 are found to be equally prevalent in this panel of patients. In a panel of carefully ascertained patients with achromatopsia, these genes are found to be causative in 21 out of 23 families.
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