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E. I. Traboulsi, S. Crowe, S. Kohl; CNGA3 Mutations in Two United Arab Emirates (UAE) Families With Achromatopsia. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3700.
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Achromatopsia results from mutations in one of three genes GNAT2, CNGA3 and CNGB3. We report the responsible mutations in two UAE families with this disease.
Clinical examinations were performed in 7 patients from three nuclear families. Molecular genetic testing for common CNGA3 and CNGB3 mutations was undertaken using standard protocols.
All patients were extremely light sensitive and had reduced visual acuity and no color perception. Fundus examinations did not show any visible abnormalities. After further investigation, two of the families were linked through the paternal line in one. Two mutations were identified - Arg283Trp and Gly397Val. In one pedigree two brothers were homozygous for the Arg283Trp mutation, while the larger pedigree had one branch in which two sisters and one brother were homozygous for the G397V mutation and another branch in which a brother and sister were compound heterozygous for the above two mutations.
Achromatopsia in these two families from the UAE results from mutations in CNGA3. These two mutations may be common in the general UAE population so that two branches of the same pedigree had individuals with both homozygous and compound heterozygous disease mutations.
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