[Optical coherence tomography in the diagnosis of achromatopsia]

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.