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  • Title: [A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia].
    Author: Burgueño-Montañés C, Colunga Cueva M, Costales Álvarez C.
    Journal: Arch Soc Esp Oftalmol; 2014 Mar; 89(3):107-9. PubMed ID: 24269407.
    Abstract:
    CASE REPORT: A 56-year old male was diagnosed with incomplete achromatopsia. His molecular genetic analysis showed two heterozygous mutations in the CNGA3 gene associated with autosomal recessive achromatopsia. One of them, c.1495C>T, has not been previously reported in achromatopsia. DISCUSSION: Achromatopsia is a congenital autosomal recessive retinal disorder. Mutations in the CNGA3 gene, located at chromosome positions 2q11, accounts for 5-25% of patients affected with this disorder. The vast majority of mutations are missense. This discovery confirms the clinical diagnosis and it allows us to provide genetic counselling.
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