[Optical coherence tomography in the diagnosis of achromatopsia]

Arch Soc Esp Oftalmol. 2014 Feb;89(2):70-3. doi: 10.1016/j.oftal.2012.07.025. Epub 2012 Oct 6.
[Article in Spanish]

Abstract

Case report: 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.

Discussion: 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.

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Color Vision Defects / classification
  • Color Vision Defects / diagnosis*
  • Color Vision Defects / genetics
  • Cyclic Nucleotide-Gated Cation Channels / genetics
  • Diagnosis, Differential
  • Fovea Centralis / pathology
  • Humans
  • Male
  • Middle Aged
  • Nystagmus, Pathologic / etiology
  • Photophobia / etiology
  • Scotoma / etiology
  • Tomography, Optical Coherence

Substances

  • CNGA3 protein, human
  • Cyclic Nucleotide-Gated Cation Channels