[Optical coherence tomography in the diagnosis of achromatopsia].

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.