title: [Optical coherence tomography in the diagnosis of achromatopsia].
abstract: METHODS
  The case of a fifty five year-old male with nyctalopia, photophobia, poor colour vision and nystagmus, is presented. The initial suspected diagnoses were achromatopsia and blue-cone monochromatism, since both are clinically indistinguishable. Optical coherence tomography (OCT) showed the characteristic foveal reflectivity pattern of achromatopsia. This diagnosis was subsequently confirmed by genetic study.
  
  
  CONCLUSIONS
  OCT is a non-invasive diagnostic imaging method that allows tissue morphology to be observed with high resolution. Its use might be of great help to distinguish clinically similar diseases.
authors.affiliation: Hospital Universitario Central de Asturias, Oviedo, España. Electronic address: casamata@gmail.com.
authors.forename: C
authors.initials: C
authors.lastname: Burgueño-Montañés
authors.affiliation: Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: M
authors.initials: M
authors.lastname: Colunga-Cueva
mesh_terms: D003117:Color Vision Defects / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D003937:Diagnosis, Differential; D005584:Fovea Centralis / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000209:etiology; D020795:Photophobia / Q000209:etiology; D012607:Scotoma / Q000209:etiology; D041623:Tomography, Optical Coherence
chemical_list: C518238:CNGA3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels
keywords: Achromatopsia; Acromatopsia; Blue-cone monochromatism; Cone dysfunction syndromes; Disfunción del sistema de conos; Monocromatismo de conos azules; Optical coherence tomography; Tomografía de coherencia óptica