The interest of the OCT spectral Domain for the diagnosis of the acromatopsia.

Abstract

Aim: the interest of the OCT spectral Domain for the diagnosis of the acromatopsia.
Case report:  It’s about 2 brothers consulting for low vision. The big brother, has a vision of 1/ 20 in two eyes. The anterior segment and the fundus examination were normals. The OCT SD shows a disappearance of the ellipsoid line in the macular region with an optic hole. The Global ERG has demonstrated flat plots in photopic component and normal in scotopic component.
The ishihara test has showed an absence of the chromatic sense. The acromatopsia was the selected diagnosis.  The exam of the second brother showed a visual acuity limited 1/20 in the right eye and counting finger in the left eye, associated to photophobia and nystagmus. The OCT and global ERG gave the same results.
Conclusion: The typical clinical picture with the ERG’s data gave the diagnosis of the acromatopsia. An early diagnosis is necessary for a suitable life of the patient and genetic consulting. This paper demonstrated the importance of the OCT SD for the diagnosis when it’s correclated to the clinic.