PubMed 24269402

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Automatically associated channels: Kv2.1

Title: [Optical coherence tomography in the diagnosis of achromatopsia].

Authors: C Burgueño-Montañés, M Colunga-Cueva

Journal, date & volume: Arch Soc Esp Oftalmol, 2014 Feb , 89, 70-3

PubMed link:

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.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.