title: [A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia].
abstract: METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España. Electronic address: casamata@gmail.com.
authors.forename: C
authors.initials: C
authors.lastname: Burgueño-Montañés
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: M
authors.initials: M
authors.lastname: Colunga Cueva
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: C
authors.initials: C
authors.lastname: Costales Álvarez
mesh_terms: D003117:Color Vision Defects / Q000235:genetics*; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: C518238:CNGA3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels
keywords: Achromatopsia; Acromatopsia; Autosomal recessive; Autosómico recesivo; CNGA3 gene; Diagnóstico genético; Gen CNGA3; Genetic diagnosis; Mutación; Mutation