[A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia]

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.

Keywords: Achromatopsia; Acromatopsia; Autosomal recessive; Autosómico recesivo; CNGA3 gene; Diagnóstico genético; Gen CNGA3; Genetic diagnosis; Mutación; Mutation.